Download connect20 - Parent Project Muscular Dystrophy

LEARN FROM YESTERDAY,
LIVE FOR TODAY, HOPE FOR
TOMORROW. THE IMPORTANT
THING IS TO NOT STOP
QUESTIONING.
Albert Einstein
I’m not a particularly nostalgic person. My instinct
We have come together time and time again and
is always to move forward, push on, keep going.
collaborated and made a difference. There is much
But when I take a moment to reflect and I think
more work to be done. And I hope you will continue to
about PPMD’s very humble beginnings – a few
look to PPMD for leadership, friendship, and strength, just
dozen families, a staff of two, focused on a disease
as we have turned to you over the last twenty years and
no one had heard of – I smile.
will continue to do in the future. This conference is but a
small representation of what we can do as a community.
When I think of those humble beginnings and where we
Twenty years have proven that strength happens
are today, what we have accomplished, and even better,
together.
the promise tomorrow holds, I am incredibly proud.
You were with us in the beginning. You are with us now.
I am proud of every member of this community who
You are the future. You are Parent Project Muscular
when faced with a Duchenne diagnosis said, “No that
Dystrophy.
is unacceptable. I will change the progression of this
disease for my [son/daughter/ brother/sister/nephew/
niece/friend/husband/myself]. Whatever it takes.”
Pat Furlong, PPMD President & CEO
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#CONNECT20
STRENGTH
20 YEARS OF
“Passing the MD-CARE Act
was a critical step…”
SEN. ROGER WICKER
“Pat and PPMD
provided a voice
to the community...”
2006
PPMD and CDC convene
community thought
leaders to develop Care
Considerations
ERIC HOFFMAN
2001
MD-CARE Act
signed into law
1998
Steroids become
gold standard
1994
PPMD founded and
1st Annual Connect
Conference
2007
DuchenneConnect
is born
2003
PPMD funds first
Duchenne Drug
Discovery Program
2000
1st Annual Advocacy
Conference held
1997
PPMD invests in
first Duchenne
Muscular Dystrophy
Research Center
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#CONNECT20
“They’re doing
everything.”
2013
PPMD announces two
$1 million RFAs for exon skipping
and late stage preclinical/early
stage clinical projects
MINDY CAMERON
2010
PPMD awards
$1 million in End
Duchenne Grant
Program with NIH
2008
Reauthorization of
the MD-CARE Act
2014
PPMD funding leads
to 10 new potential
therapies now in
clinical trial
........
2012
2011
PPMD invests
$2 million in
Cardiac Care
Initiative
PPMD helps lead the
way for FDASIA to be
passed by Congress
mandating regulatory
flexibility for rare
diseases
PPMD receives
funding award from
PCORI
........
PPMD certifies
Nationwide Children’s
Hospital as part of
Certified Duchenne
Care Center Program
........
PPMD leads
community in drafting
guidance for FDA.
Presented to FDA
in June 2014.
2009
Care Considerations
published
........
PPMD creates FACES
program uniting
Duchenne families
“...the Duchenne world would
be years behind where it is
today without PPMD.”
LEE SWEENEY
“PPMD has been the spark
that ignited the flame of
determination in all of us...”
BRENDA WONG
#CONNECT20
2015 AND BEYOND
PPMD continues to invest in all promising
research strategies, to leverage federal
investments, to constantly change the
face of care for Duchenne, and unite the
community through expertise and leadership.
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“COCKTAIL”
APPROACH
TREATING DUCHENNE WITH A
As we were finalizing the agenda for this year’s Connect Conference,
The chart below gives a good overview of the many targets for
I was once again amazed at how much of a challenge it is to squeeze
therapeutic intervention in Duchenne—with the idea that we will
in all of the talks on different therapeutic approaches to treating
ultimately treat Duchenne with a “cocktail” approach. PPMD is
Duchenne—in fact, there are too many to cover comprehensively
funding research in almost all of these areas.
this year. Sometimes it’s good to remember that mutation-specific
approaches like exon skipping, although promising and exciting, are
not our only irons in the fire. And many of these other therapeutic
approaches will be entering the clinic by the end of this year or the
next, providing a variety of options for participating in trials.
Stop-codon
Readthrough
Sharon Hesterlee, PhD, PPMD’s VP of Research
Exon-Skipping
Functional replacement
with other proteins
Gene Therapy
Dystrophin Restoration /
Replacement
Anti-fibrotics
Inflammation
& Fibrosis
Steroid
Replacements
Poloxymer
Cardiac
TREATING
DUCHENNE
Serca 2A
Calcium
Regulators
Ryanodine
Receptor
GsMTx4
4
Traditional
cardiac drugs
Muscle
Mass
Muscle
growth pathways
Blood
Flow
Stem Cells
PDE5
#CONNECT20
FAQ’S
CLINICAL TRIAL
ACTIVELY RECRUITING
PAGE
PRE-CLINICAL
PAGE
Becker Natural History Study
6
Biglycan
27
Clinical Evaluator Outcomes Reliability Study
7
BMS-986089
28
Coenzyme Q10 and Lisinopril
8
Carmeseal-MD
29
DP ARF Ultrasound
9
DMD: iPS Cell Therapy
30
Duchenne Natural History Study
10
DT-200
31
Duchenne Tissue Bank
11
GALGT2 Gene Therapy
32
EIM and Ultrasound
12
Laminin-111
33
Follistatin Gene Transfer
13
NBD Peptide
34
FOR-DMD
14
PRO052/PRO055
35
HT-100
16
RTC13 Read-Through Compound
36
Tadalafil
17
Rycal® ARM210
37
Translarna™ (ataluren)
18
Spironolactone
38
Tamoxifen
39
VBP15
40
NOT YET RECRUITING
PAGE
CAT100
19
DRISAPERSEN
20
Exon Skipping for DMD (Sarepta Therapeutics)
21
ISOFEN
24
PF-06252616
25
SMT C1100
26
ACTIVE BUT NOT RECRUITING
Early Treatment of Cardiomyopathy
41
ImagingDMD
42
PRO044
43
PRO045
44
PRO053
45
COMPLETED
#CONNECT20
PAGE
PAGE
CATENA®
46
IGF-1 (Increlex)
47
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ACTIVELY RECRUITING | NOT YET RECRUITING | PRE-CLINICAL | ACTIVE BUT NOT RECRUITING | COMPLETED
Becker Natural History Study
Becker Muscular Dystrophy: A Natural History Study to Predict Efficacy of Exon Skipping
•What stage is this research?
•Where does this study take place?
This study is actively recruiting participants.
•What is the goal or purpose of this study?
This is a natural history study to characterize the Becker muscular
dystrophy (Becker) clinical presentation. Investigators will collect
information on Becker patients whose in-frame mutations mirror
those that would be generated in Duchenne muscular dystrophy
(Duchenne) patients treated with skipping of exons 45, 51, or
53. Researchers will correlate specific abnormal dystrophin
proteins with the range of clinical outcomes, including physical
development, mental development, and quality of life in patients
with these specific mutations. Researchers will investigate the
observed variability to deepen our understanding of molecular
mechanisms relevant to the optimization of exon skipping
therapeutic approaches.
This study is funded by the National Institutes of Health (NIH).
•Who is eligible to participate in this study?
To participate in this study you must be a male with Becker, age
4 and above, and have one of the following dystrophin gene
deletions where the boundaries of the mutations are confirmed:
Exon 45
corresponding inframe mutations:
Exon 51
corresponding inframe mutations:
Exon 53
corresponding inframe mutations:
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Exon 13-51
Exon 29-51
Exon 43-51
Exon 47-51
Exon 48-51
Exon 49-51
Exon 50-51
Exon 51-52
Exon 10-53
Exon 43-53
Exon 47-53
Exon 48-53
Exon 49-53
Exon 50-53
•What do I have to do if I decide to participate in this
study?
At each study visit you will have a physical and neurological exam
by a study physician, and review your health medication and cardiac
history. You will have strength, function, and breathing testing
performed by a physical therapist, and you will also complete
quality of life questionnaires. At your first study visit you will also
have a blood draw and a skin biopsy, and adults will have the option
to have a muscle biopsy.
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•How many visits to the study site are necessary?
There will be a total of 4 visits – a baseline evaluation and 3
annual follow-up visits over a 3-year period.
•Can any visits be done locally?
•Who is funding this study?
Exons 44-45
Exon 45-46
Exon 45-47
Exon 45-48
Exon 45-49
Exon 45-51
Exon 45-53
Exon 45-55
Exon 45-59
This study will be run at participating centers of the Cooperative
International Neuromuscular Research Group (CINRG) network.
The participating CINRG centers include Children’s National
Medical Center in Washington, D.C.; the University of Pittsburgh
in Pittsburgh, PA; the University of Minnesota in Minneapolis, MN;
Ann & Robert H. Lurie Children’s Hospital of Chicago in Chicago,
IL; Texas Children’s Hospital in Houston, TX; the University of
California, Davis, in Sacramento, CA; and Alberta Children’s
Hospital in Calgary, Alberta, Canada. More sites will be added in
the future so be sure to check www.ClinicalTrials.gov or the website
for the CINRG group: www.cinrgresearch.org for updated site lists.
No, they must be done at a participating CINRG center.
•Is there any funding to help pay for travel?
The study does not provide any funds for travel; however
please inquire at each individual site as some CINRG sites
may have alternative resources for travel reimbursement or
assistance.
•Will I get paid for participating in this study?
No, you will not be paid for your participation in this study. You
will not be charged for additional tests and procedures that are
performed only because you are participating in this research. Your
responsibility to pay for other medical treatment will not change by
your participation in this study.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a study, there are other benefits, including allowing you to play
an active role in your own health care (or that of your child), gaining
access to medical specialists that are normally not available to
you or your child, and helping others by contributing to the better
understanding of Becker.
•Where can I learn more about this study?
»» You can learn more about this study at
www.cinrgresearch.org and www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
#CONNECT20
ACTIVELY RECRUITING | NOT YET RECRUITING | PRE-CLINICAL | ACTIVE BUT NOT RECRUITING | COMPLETED
Clinical Evaluator Outcomes Reliability
Study
•What stage is this research?
This study is actively recruiting Duchenne and Becker
muscular dystrophy participants.
•What is the goal or purpose of this study?
This study outlines structured Clinical Evaluator (CE)
testing techniques that are implemented across all
sites participating in the Cooperative International
Neuromuscular Research Group (CINRG) research studies.
The study will determine if the selected techniques are
reliable and reproducible across the CINRG network by
evaluating the reliability and reproducibility of the measures
between CEs. The reliability of these commonly used
measurements is fundamental to clinical research, our ability
to have confidence in the data we collect, and our ability to
draw rational conclusions from the data.
•Who is sponsoring this study?
This study is sponsored by the Foundation to Eradicate
Duchenne (FED).
•Who is eligible to participate in this study?
Researchers are now recruiting individuals with Duchenne
or Becker muscular dystrophy, ages 6 years and older. The
diagnosis of Duchenne or Becker muscular dystrophy must
be confirmed by a genetic test and/or muscle biopsy. In
addition, participants must be able to transfer to a testing
table and walk 10 meters without an assistive device.
•What do I have to do if I decide to participate in this
study?
•How many visits to the study site are necessary?
Only one visit.
•Can the visits be done locally?
No, they must be done at a participating CINRG center.
•Is there any funding to help pay for travel?
The study does not provide any funds for travel;
however please inquire at each individual site as some
CINRG sites may have alternative resources for travel
reimbursement or assistance.
•Will I get paid for participating in this study?
No, you will not be paid for your participation in this study.
You will not be charged for additional tests and procedures
that are performed only because you are participating in
this research. Your responsibility to pay for other medical
treatment will not be changed by your participation in this
study.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by
participation in a study, there are other benefits, including a
full assessment of your physical function and contributing to
a study that will benefit muscular dystrophy research.
•Where can I learn more about this study?
»» You can learn more about this study at
www.cinrgresearch.org and www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to
this FAQ sheet.
You will perform multiple tests that will measure your muscle
strength and function. You will also perform breathing tests.
You will perform these tests three times with two different
physical therapists.
•Where does this study take place?
This study will be run at 13 participating centers within
the CINRG network. The participating CINRG centers
may include sites in the US and additional sites in Canada,
Argentina, Puerto Rico, Italy, Sweden, India, Israel, and
Australia. Please check www.clinicaltrials.gov or the CINRG
website www.cinrgresearch.org for a list of participating
sites. These websites will be updated as sites are added to
the study. Alternatively you may contact the lead Project
Manager: Zoë Sund Tel: 202-476-4110 Email: zsund@
childrensnational.org.
#CONNECT20
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ACTIVELY RECRUITING | NOT YET RECRUITING | PRE-CLINICAL | ACTIVE BUT NOT RECRUITING | COMPLETED
Coenzyme Q10 and Lisinopril
Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies
•What stage is this research?
This clinical trial is actively recruiting participants.
•What is the goal or purpose of this study?
This is a clinical trial to test a medication used for the heart, called
Lisinopril (an angiotensin converting enzyme (ACE) inhibitor) and
supplement called Coenzyme Q10, to ameliorate the decline in
cardiac muscle functions that occurs in muscular dystrophies. The
goal of this study is to determine if Coenzyme Q10 alone, Lisinopril
alone, or a combination of Coenzyme Q10 and Lisinopril is more
effective at delaying the onset of cardiac symptoms in patients with
Duchenne, Becker, or Limb Girdle muscular dystrophy.
•Who is funding this study?
This study is funded by the Department of Defense (DOD).
•Who is eligible to participate in this study?
To participate in this study you must have a confirmed genetic
diagnosis of Duchenne, Becker, or Limb Girdle muscular dystrophy
(certain type 2 only), be 8 years of age or older, and have no
clinical cardiac symptoms with a normal left ventricular fractional
shortening (>28%) on echocardiogram. You cannot currently be
taking Coenzyme Q10, Lisinopril, or beta blockers (a type of heart
medication), and you cannot have used these medications in the
past for longer than 6 months.
•What do I have to do if I decide to participate in this
study?
First you will have a screening visit. If you are eligible to participate
in the study based on the results of your screening visit, you will
be randomized to one of four study arms: Arm 1 – CoQ10 alone,
Arm 2 – Lisinopril alone, Arm 3 – both CoQ10 and Lisinopril, or
Arm 4 – Enhanced standard of care with no study medication. You
will then have scheduled study visits, which include a physician
exam, strength & breathing testing, spine x-rays, echocardiograms,
electrocardiograms, and blood work.
•Where does this study take place?
This study will be run at select Cooperative International
Neuromuscular Research Group (CINRG) network sites and
affiliates. This study is currently approved at 9 participating
sites: Children’s National Medical Center, Washington, DC; Ann
& Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL;
Carolinas Medical Center, Charlotte, NC; University of Pittsburgh,
Pittsburgh, PA; University of Tennessee, Memphis, TN; University of
California, Davis, Sacramento, CA; National Center of Neurology
and Psychiatry, Tokyo, Japan, Alberta Children’s Hospital, Calgary,
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Alberta, Canada, and the University of California, Los Angeles, Los
Angeles, CA . However, more sites will be added in the future so be
sure to check www.clinicaltrials.gov or the website for the CINRG
group: www.cinrgresearch.org for updated site lists.
•How many visits to the study site are necessary?
There are 6-7 visits during the 24 months of the study, which
includes screening and months 0.5, 1.5, 6, 12, 18 and 24.
•Can any visits be done locally?
No, visits must be done at a participating CINRG center.
•Is there any funding to help pay for travel?
The study does not provide any funds for travel; however
please inquire at each individual site as some CINRG sites
may have alternative resources for travel reimbursement or
assistance.
•Will I get paid for participating in this study?
No, you will not be paid for your participation in this study. The
study site will provide you with the study medication free of
charge, should you be placed in an arm involving the use of a
study medication. You will not be charged for additional tests and
procedures that are performed only because you are participating
in this research. Your responsibility to pay for other medical
treatment will not be changed by your participation in this study.
•Why should I consider participating in this study?
One benefit that may result from participation in this clinical trial
is a delay in the development of heart problems associated with
muscular dystrophy. We are doing this study to find out whether
or not people with certain types of muscular dystrophy will do
better with lisinopril, CoQ10, or neither. We anticipate that there
will be a benefit, but the amount of potential benefit is unknown.
There is no greater or lesser benefit anticipated for any of the four
randomization groups listed above. Everyone who participates in
the study will benefit from more frequent doctors visits and closer
medical monitoring. By watching you more closely, we may find
problems and treat them earlier than if you were seen less often.
•Where can I learn more about this study?
»» You can learn more about this study at
www.cinrgresearch.org and www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
#CONNECT20
ACTIVELY RECRUITING | NOT YET RECRUITING | PRE-CLINICAL | ACTIVE BUT NOT RECRUITING | COMPLETED
DP ARF Ultrasound
Double-Push Acoustic Radiation Force (DP ARF) Ultrasound for Monitoring Degeneration in Duchenne Muscular Dystrophy
•What stage is this research?
This study is actively recruiting participants.
•What is the goal or purpose of this study?
This is a pilot clinical trial to assess the ability of a new ultrasoundbased imaging method, Double-Push Acoustic Radiation Force (DP
ARF) ultrasound, to monitor the progression of Duchenne muscular
dystrophy.
•Who is sponsoring this study?
This study is sponsored by the University of North Carolina, Chapel
Hill, in collaboration with the National Institute of Neurological
Disorders and Stroke (NINDS).
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a study, a potential indirect benefit may be the satisfaction of
being a part of the advancement of medical science to improve
monitoring and treatment of Duchenne and the other 30+ types of
muscular dystrophies in children and adults.
•Where can I learn more about this study?
»» You can learn more about this study at
www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•Who is eligible to participate in this study?
The study population will include 30 boys with Duchenne enrolling
at ages 5 to 10 years. To be considered for enrollment, boys must
have a clinical onset of Duchenne by age 5, and must have the
ability to stand, either alone or with assistance.
•What do I have to do if I decide to participate in this
study?
All boys will be imaged 3 times annually for 4 years. In addition to
DP ARF imaging every 4 months, the boys will undergo standard
quantitative muscle testing (QMT) and timed function tests (TFT)
of time to standing, 6-minute walk, and 30-feet walk. Age at loss of
ambulation will also be recorded for each boy.
•Where does this study take place?
This study takes place at the University of North Carolina, Chapel
Hill (UNC-CH).
•How many visits to the study site are necessary,
and can any visits be done locally?
A total of 12 visits – 3 per year for 4 years. All visits must be at
UNC-CH.
•Is there any funding to help pay for travel?
Yes, this study provides reimbursement for air travel (for the
patient and an accompanying adult) and car travel (by the
mile). Hotel accommodations in Chapel Hill are also provided.
•Will I get paid for participating in this study?
No, there is no payment for participating, other than the funding to
help with travel costs.
#CONNECT20
9
ACTIVELY RECRUITING | NOT YET RECRUITING | PRE-CLINICAL | ACTIVE BUT NOT RECRUITING | COMPLETED
Duchenne Natural History Study
Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy
•What stage is this research?
This study is actively recruiting Duchenne muscular dystrophy and
healthy control participants.
•What is the goal or purpose of this research?
»» The purpose of this study is to establish the largest long-term
assessment of people with Duchenne muscular dystrophy
(Duchenne). In this study, the investigators associated with the
Cooperative International Neuromuscular Research Group
(CINRG) will take a detailed look at Duchenne participant’s
physical abilities, the medical problems they experience, and
how they use health care services. Physical abilities will be
compared to a group of healthy controls.
»» The second purpose of this study is to find out whether small,
normal differences in the genetic makeup of people with
Duchenne (called “single nucleotide polymorphisms” or “SNPs”)
affect how their disease progresses and relates to muscle
strength/size and steroid response.
»» The third purpose of this study is to study genetic variations
associated with Duchenne.
»» The final purpose of this study is to determine whether certain
biomarkers are present in people with Duchenne and not in
healthy controls.
•Who is sponsoring this research?
This study is sponsored by the U.S. Department of Education,
National Institutes of Health (NIH), and Department of Defense.
Parent Project Muscular Dystrophy is funding the study of the New
Young Duchenne Cohort.
•Who is eligible to participate in this trial?
»» Researchers are now recruiting for the New Young Duchenne
Muscular Dystrophy Cohort. 100 male Duchenne participants,
age 4 – 7 years old, are needed. The diagnosis of Duchenne
must be confirmed by genetic test and/or muscle biopsy.
»» Researchers are now recruiting for the Healthy Control Cohort.
120 male healthy controls, ages 6-17 years old, are needed.
•What to I have to do if I decide to participate in this
trial?
»» Duchenne Cohort: At each study visit you will have a physical
and neurological exam by a study physician, and your health
medication will be reviewed. You will have strength, function,
and breathing testing performed by a physical therapist, and you
and/or your parent/legal guardian will also complete quality of
life questionnaires. Optional saliva and/or blood samples will be
collected for genetic and/or biomarker (markers that may help us
understand more about Duchenne) analysis.
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»» Healthy Control Cohort: At each study visit you will have
strength and function testing completed. Optional blood
samples will be collected for biomarker (markers that may help
us understand more about Duchenne) analysis.
•Where does this study take place?
»» This study will be run at 22 participating centers of the
Cooperative International Neuromuscular Research Group
(CINRG) network. The participating CINRG centers include 12
sites in the US and additional sites in Canada, Argentina, Puerto
Rico, Italy, Sweden, India, Israel, and Australia. More sites may
be added in the future so be sure to check www.clinicaltrials.gov
or the website for the CINRG group: www.cinrgresearch.org for
updated site lists.
•How many visits to the study site are necessary?
There will be up to 12 visits for Duchenne participants.
There will be 2 visits for typically developing controls.
•Can any visits be done locally?
No, they must be done at participating CINRG centers.
•Is there any funding to help pay for travel?
The study does not provide any funds for travel; however
please inquire at each individual site as some CINRG sites
may have alternative resources for travel reimbursement or
assistance.
•Will I get paid for participating in this study?
No, you will not be paid for your participation in this study. You
will not be charged for additional tests and procedures that are
performed only because you are participating in this research. Your
responsibility to pay for other medical treatment will not change by
your participation in this study.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a study, there are other benefits, including allowing you to play
an active role in your own health care (or that of your child), gaining
access to medical specialists that are normally not available to
you or your child, and helping others by contributing to the better
understanding of Duchenne.
•Where can I learn more about this study?
»» You can learn more about this study at
www.cinrgresearch.org and www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
#CONNECT20
ACTIVELY RECRUITING | NOT YET RECRUITING | PRE-CLINICAL | ACTIVE BUT NOT RECRUITING | COMPLETED
Duchenne Tissue Bank
Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
•What stage is this research?
This study is actively recruiting Duchenne muscular dystrophy
participants.
•What is the goal or purpose of this study?
Researchers will utilize the Cooperative International
Neuromuscular Research Group (CINRG) network to collect and
store tissue and blood from patients with Duchenne with specific
genetic mutations within the dystrophin gene that could be treated
by antisense oligonucleotide (AO) drugs (exon skipping therapies).
•Who is sponsoring this study?
This study is sponsored by the National Institutes of Health (NIH).
•Who is eligible to participate in this study?
Researchers are recruiting 60 males with Duchenne, age 4 years
and older. Participants must have a known out-of-frame deletion
that could be targeted by exon skipping therapies for exons 45,
51, or 53. These include:
Mutations eligible
for exon 45:
Mutations eligible
for exon 51:
Mutations eligible for
exon 53:
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Exon 44
Exon 46
Exon 46-47
Exon 46-48
Exon 46-49
Exon 46-51
Exon 46-53
Exon 46-55
Exon 46-60
Exon 13-50
Exon 29-50
Exon 43-50
Exon 45-50
Exon 47-50
Exon 48-50
Exon 49-50
Exon 50
Exon 52
Exon 52-63
Exon 10-52
Exon 43-52
Exon 45-52
Exon 47-52
Exon 48-52
Exon 49-52
Exon 50-52
•What to I have to do if I decide to participate in this
study?
A blood and skin sample will be collected from each participant
and will be held in a tissue bank at Carolinas Medical Center in
Charlotte, NC for future Duchenne research.
Hospital in Houston, TX; the University of California, Davis, in
Sacramento, CA; Alberta Children’s Hospital in Calgary, Alberta,
Canada; the University of Tennessee in Memphis, TN, and Ann
& Robert H. Lurie Children’s Hospital of Chicago in Chicago, IL.
More sites will be added in the future so be sure to check www.
clinicaltrials.gov or the website for the CINRG group: www.
cinrgresearch.org for updated site lists.
•How many visits to the study site are necessary?
Only 1 visit will be needed to collect the blood and skin
samples.
•Can any visits be done locally?
No, they must be done at a participating CINRG center.
•Is there any funding to help pay for travel?
The study does not provide any funds for travel.
•Will I get paid for participating in this study?
No, you will not be paid for your participation in this study. You
will not be charged for additional tests and procedures that are
performed only because you are participating in this research.
Your responsibility to pay for other medical treatment will not be
changed by your participation in this study.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a study, there are other benefits, including allowing you to play
an active role in your own health care (or that of your child), gaining
access to medical specialists that are normally not available to
you or your child, and helping others by contributing to the better
understanding of Duchenne.
•Where can I learn more about this study?
»» You can learn more about this study at
www.cinrgresearch.org and www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•Where does this study take place?
This study will be run at select Cooperative International
Neuromuscular Research Group (CINRG) network sites and
affiliates. The participating CINRG centers include the University
of Pittsburgh in Pittsburgh, PA; Johns Hopkins / Kennedy Krieger
in Baltimore, MD; Stanford University Medical Center in Stanford,
CA; Carolinas Medical Center in Charlotte, NC; Texas Children’s
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EIM and Ultrasound
Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne
•What stage is this research?
This study is actively recruiting participants.
•What is the goal or purpose of this study?
This study is evaluating two new techniques which measure
muscle function and monitor disease progression in patients with
Duchenne. The first, called electrical impedance myography
(EIM), will test nerve and muscle function, and the second, called
quantitative ultrasound (QUS), will be used to take images of the
muscle. The testing is all pain free.
•Who is sponsoring this study?
This is a National Institute of Health (NIH) study sponsored by
the National Institute of Arthritis and Musculoskeletal and Skin
Diseases (NIAMS), and is being conducted by Boston Children’s
Hospital in collaboration with Beth Israel Deaconess Medical
Center.
•Who is eligible to participate in this study?
The study population will include 50 boys with Duchenne, age 2 30 years, as well as 50 healthy male controls, age 2 - 30 years.
•Will I get paid for participating in this study, and is
there any funding to help pay for travel?
Compensation will be provided for each completed study visit in
the form of a $30 VISA gift card, and you will also be reimbursed
for parking for the entire day, and a $10 meal voucher. Patients and
families will not be reimbursed for travel.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a study, there are other benefits, including allowing you to play
an active role in your own health care (or that of your child), gaining
access to medical specialists that are normally not available to
you or your child, and helping others by contributing to the better
understanding of Duchenne.
•Where can I learn more about this study?
»» You can learn more about this study at www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What to I have to do if I decide to participate in this
study?
»» Children participating in the study will come in for 10 visits over
two years. Visits will take place every month at first, then less
often for the remaining visits. The tests for the study itself take
approximately 2 hours.
»» The first test uses an ultrasound machine. Pictures of different
muscles are taken with the system, and the pictures are then
analyzed mathematically. Each measurement takes only seconds
and is entirely painless.
»» The second tool is called electrical impedance myography
(EIM), which uses a machine to measure how well a tiny electrical
current travels through muscle. Investigators will wet the skin with
saline, and then place a probe on the skin. Each measurement
takes only a few seconds and is painless.
»» There are also functional tests done by a physical therapist,
which measure muscle strength and endurance.
•Where does this study take place?
This study takes place at Boston Children’s Hospital. Visits
are sometimes also conducted at satellite branches of Boston
Children’s Hospital, including the site at Peabody, MA and at
Waltham, MA.
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Follistatin Gene Transfer
Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis
•What stage is this research?
This Phase 1 trial is enrolling participants by invitation only.
•Where is this research being performed and who is
funding this research?
This research is being led by Dr. Jerry Mendell at Nationwide
Children’s Hospital Research Center in Columbus, Ohio. It is being
funded by Parent Project Muscular Dystrophy’s GIFTED Program.
•What is the goal or purpose of this research?
»» Follistatin is a muscle growth-stimulating protein. This
research is intended to build upon preliminary studies in mice
with muscular dystrophy and in non-human primates which
demonstrated that the follistatin gene, when injected into
muscles, can cause significant increases in the size of injected
muscles and improvements in the strength of injected muscles. If
successful, the investigators can potentially prolong a patient’s
ability to walk.
»» The gene will be carried into the muscle by a virus called adenoassociated virus (AAV). This virus occurs naturally in muscle and
does not cause any human disease.
•What are the future plans for this research?
If this study is successful, the investigators will expand the
research to a phase 2 study and will also make plans to test it in
patients with Duchenne.
•Where can I learn more about this research?
»» You can learn more about this research at
www.nationwidechildrens.org/center-for-gene-therapy and
www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•Who is eligible to participate in this study?
Again, this study is recruiting patients by invitation only. Adult
male Becker patients (>18yo) with a proven mutation of the
dystrophin gene and continued ambulation after age 15 years old
are being recruited. Participants must have identifiable atrophy
of the quadriceps muscle with muscle weakness ≥2 standard
deviations below predicted using quantitative muscle testing.
This study is also recruiting patients with sproadic inclusion body
myositis.
•What do participants have to do in this study?
Participants with either of these diseases will have shots of the
follistatin gene injected directly into their thigh muscle on one or
both legs (one time only). One hundred and eighty days following
the gene delivery, participants will undergo testing to see if their
muscle strength has improved and muscle biopsy to look closely
at the muscle to see if the muscle fibers are bigger. Between the
time of the gene transfer and the muscle biopsy, participants will
be carefully monitored for any side effects of the treatment. This
will include an MRI of the thigh muscle before treatment and at day
180 following treatment. Blood and urine tests, as well as physical
examination will be done on the participants during the screening
visit and several times throughout the study to make sure that there
are no side effects from the gene injections.
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FOR-DMD
Finding the optimal steroid treatment for Duchenne muscular dystrophy
•What stage is this research?
This study is actively recruiting participants.
•What is the goal or purpose of the FOR-DMD study?
»» This study will look at the benefits and side effects of
the three most widely prescribed steroid treatments for
Duchenne muscular dystrophy (Duchenne). The type of steroids
commonly prescribed for Duchenne are called corticosteroids.
Corticosteroids are a type of drug similar to natural hormones
produced by the adrenal glands that reduce inflammation and
suppress the immune response. They are often prescribed to
boys with Duchenne. These steroids may have an effect on
stabilizing or even improving muscle strength for a period of
time but not all boys respond to treatment. The main steroid
that is used is called predniboye. Deflazacort is also used in
some countries. These are not “anabolic steroids” which is what
athletes use illegally to build up muscle – these do not have
an effect in Duchenne. Sometimes they are also referred to as
‘glucocorticoids.’
»» We will compare three different treatment groups:
»» Daily predniboye
»» Daily deflazacort
»» Intermittent predniboye (10 days on / 10 days off).
The study is randomised (your child’s treatment group will be
decided randomly, as in drawing names from a hat or tossing a
coin) and double-blind which means that neither participants nor
their doctors will know which group the child is in (until the study
is completed).
»» All three steroid treatments are commonly used in boys with
Duchenne and have been shown to be beneficial. Benefits
include an increase in the length of time that the boys can
continue to walk, reduction in the development of curvature of
the spine, a longer time of adequate breathing, and possibly
protection against the development of heart problems.
»» However, we do not yet know which steroid treatment has the
most benefit and most tolerable side effects. Therefore, this
is a trial of present day steroid use which is needed because
the practice of prescribing steroids varies a lot across doctors.
This means that patients may not be getting the best possible
treatment and management of side effects. All boys in this study
will be receiving treatment with steroids and will be managed as
per the recognized standards of care.
•Who is eligible to be in this study?
To be in this study your child must have a confirmed diagnosis of
Duchenne by genetic test. He must be between 4 and 7 years old
and NOT previously treated with steroids except by inhaler or as
an ointment. 300 participants are needed, and approximately 96
have enrolled since January.
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•Where will this study take place?
This study will take place in at least 43 muscle clinics in the US,
Canada, UK, Germany and Italy and other countries may also be
included later. Please visit www.clinicaltrials.gov for a complete
list of all study sites. The principal investigators are Dr. R Griggs
at the University of Rochester, NY and Prof. K Bushby at Newcastle
University, UK.
•What will happen during the study?
»» If you are interested in the study and your child appears to be
eligible, he will be invited to visit the study site for a screening
visit. At this appointment the study will be explained to you and
your child in detail and some tests will be performed to allow
the study doctors to ensure your child meets all the necessary
requirements to participate in this study. After the screening
period, you and your child will visit the study site at 3 months
and then every 6 months after that. There will be a total of
around 8-13 visits depending on when your child is enrolled.
At each visit your child will be assessed to monitor benefits and
side effects of corticosteroids. We hope that many children will
be able to find a muscle clinic that is participating in the study
reasonably close to where they live and that the study visits will
take the place of their routine follow up.
»» We expect your child will be in the study for 3-5 years.
•Is there any funding to help pay for travel?
For participants in the United States and Canada, we are able to
reimburse reasonable travel expenses (airfare, mileage, hotel,
meals, etc.) incurred to reach the study center closest to the
participant’s home. We are able to offer this assistance through a
grant provided by the Muscular Dystrophy Association (MDA). After
the screening visits, the frequency of clinic visits should not be any
more than is usual for follow up in Duchenne.
•Will I get paid for participating in this study?
No.
•Will I have access to the drug once the study has
ended?
»» Yes, your doctor will discuss treatment options at the end of the
study to decide the best steroid treatment plan for your child.
»» The only issue is that deflazacort is not currently available in the
US and we don’t know if it would be available in the US if the
study showed it to be better than the other treatments. We are
discussing this with the FDA. Deflazacort is already available
in many countries and, in the US, it can be ordered from other
countries by physician prescription.
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•Will participating in this study prevent my child from
taking part in other clinical trials?
We are aware that trials of other potential new therapies may start
during the course of the study. As steroid treatment is part of the
normal standard of care in Duchenne we do not believe that being
in this study would prevent your child from being in another study
later if there were one that he were eligible for. Moreover, although
we hope that the majority of children will finish the whole trial, as
with any clinical study, you are entitled to withdraw at any time if
you no longer wish to participate.
•Why should I consider participating in this study?
»» While no personal benefit can ever be guaranteed from being in
a clinical trial, there are other benefits, including:
»» Allowing you to play an active role in Duchenne research
»» Access to medical specialists that might not normally be
available to your child
»» Access to high standard medical care and management in
Duchenne
»» Contributing to the better understanding of Duchenne and
what the best steroid treatment is
»» All participants will be getting active drug (there is no placebo
group) and will be followed up and managed during the trial
according to current standards of care.
•What should I do if I decide I want to take part in this
study?
Please visit www.ClinicalTrials.gov for a complete list of study
sites and the study coordinator at each site. Please call or email
the study coordinator at the site nearest your home if you would
like to participate. You can also contact the FOR-DMD US Project
Manager, Kimberly Hart, at telephone 585-275-3767 or email
[email protected].
•Who is funding this study?
This study is funded by the National Institutes of Health (NINDS).
•Where can I learn more about this study?
»» You can learn more about this study at www.for-dmd.org and
www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
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HT-100
Safety, Tolerability, and Pharmacokinetics of Single & Multiple Doses of HT-100 in DMD
•What stage is this research?
This trial is actively recruiting participants.
•What is the goal or purpose of this research?
»» The main purpose of this study is to test the safety and
tolerability of different, increasing doses of an experimental
medication called HT-100 in boys and young men with Duchenne
muscular dystrophy. The study medication, HT-100, is a medicine
that may help promote healthy muscle regeneration, diminish
inflammation and the resulting damage to muscle, and
decrease the scar tissue that forms in the muscles of children
with Duchenne. HT-100 does not appear to be mutation-specific,
meaning it is potentially applicable to all boys and young men
with Duchenne.
»» Halo Therapeutics has an approved IND from the FDA allowing
the company to conduct this research and has received Orphan
Drug status for HT-100 for Duchenne.
•Who is funding this research?
The drug is being developed for Duchenne by Halo Therapeutics,
LLC. This research is funded by the Nash Avery Foundation,
Charley’s Fund, Parent Project Muscular Dystrophy, and 14 other
Duchenne patient foundations.
•Who is eligible to participate in this trial?
This trial is open to males with Duchenne, ages 6-20 years old.
Ambulatory or non-ambulatory boys can enroll, and participants
may be either corticosteroid-naive or on corticosteroid therapy
for at least 12 months (stable dose and regimen). Recent,
substantial change in use of cardiac medications or medications
affecting muscle function and/or significantly compromised cardiorespiratory function would exclude you from this trial.
•What to I have to do if I decide to participate in this
trial?
»» Single and multiple ascending doses of HT-100 will be given
to participants. Safety and tolerability will be assessed.
Pharmacokinetic sampling, or measurements of the amount of
HT-100 in the bloodstream, will also be taken.
»» This initial study of safety and tolerability will be followed
immediately by a 6-month, open label extension study. All boys
and young men who complete the initial study will be eligible
to participate in the extension study.
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•Where does this clinical trial take place?
»» There are 5 sites in the US: UC-Davis in Sacramento, CA;
Kennedy Krieger Institute in Baltimore, MD; Washington
University School of Medicine in St. Louis, MO; Nationwide
Children’s Hospital in Columbus, OH; and Cincinnati Children’s
Hospital in Cincinnati, OH.
•How many visits to the study site are necessary?
For the initial study, there are 9 separate visits to the study site,
some of which require an overnight stay, and some of which
occur over multiple days. For the extension study, there are 4
separate visits to the study site, about 1 every other month. All
visits, except the visit at 6 months (which occurs over multiple
days), are 1-day visits.
•Is there any funding to help pay for travel?
Yes, there is some funding available to help pay for travel. In
addition, Halo Therapeutics (the sponsor) is making available a
travel coordinator to assist families with travel planning.
•Will I get paid for participating in this study?
No, there is no stipend for participating in this study
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a clinical trial, there are other benefits, including allowing you to
play an active role in the health care of your child, gaining access
to medical specialists that are normally not available to your child,
and helping others by contributing to the better understanding of
Duchenne.
•Where can I learn more about this research?
»» You can learn more at www.halotherapeutics.com and www.
ClinicalTrials.gov.
»» Patients interested in participating in this trial can email Halo
using this address: [email protected]
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
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Tadalafil
A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy
•What stage is this research?
This Phase 3 clinical trial is actively enrolling participants.
•What is the goal or purpose of this research?
The main purpose of this study is to determine if tadalafil can slow
the decline in walking ability of boys who have Duchenne muscular
dystrophy. The study will also assess the safety of tadalafil and
any side effects that might be associated with it in boys who have
Duchenne.
•Where can I learn more about this study?
»» Please visit www.lvjjstudy.com or call 1-877-CTLILLY
(1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to
5 PM EST.
»» www.clinicaltrials.gov (code NCT01865084)
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•Who is the sponsor of this study?
Eli Lilly and Company (www.lilly.com) is the sponsor of this study.
•What are the inclusion (enrollment) criteria for this
trial?
Participants will need to be boys with Duchenne who are between
the ages of 7-14 years old and ambulatory. Participants must
be on a stable corticosteroid therapy for at least 6 months prior
to screening, and must have a left ventricular ejection fraction
(LVEF) ≥50% as determined by echocardiogram. Additional details
regarding the inclusion and exclusion criteria are posted on www.
ClinicalTrials.gov.
•What to I have to do if I decide to participate in this
trial?
Participants will receive study treatment (tadalafil or placebo) for
the first 48 weeks of the study, and can then continue into a 48 week
extension period during which all participants will receive tadalafil.
The primary outcome measure that will be measured at study visits
is the 6-minute walk test.
•Where does the trial take place?
There are currently sites in 16 states in the US, as well as multiple
sites in 14 other countries (Asia, Canada, Europe and South
America). Please check www.clinicaltrials.gov for a complete list of
study sites.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a clinical trial, there are other benefits, including allowing you to
play an active role in the health care of your child, gaining access
to medical specialists that are normally not available to your child,
and helping others by contributing to the better understanding of
Duchenne.
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Translarna™ (ataluren)
An Investigational New Drug for Nonsense Mutations by PTC Therapeutics
•What is the current status of ataluren?
»» PTC recently announced that the Committee for Medicinal
Products for Human Use (CHMP) of the European Medicines
Agency has adopted a positive opinion regarding the company’s
application for a conditional marketing authorization of ataluren
for the treatment of nonsense mutation Duchenne muscular
dystrophy (nmDMD) in ambulatory patients aged five years
and older. Ataluren will be marketed under the brand name
Translarna™, and is the first drug for the underlying cause of
Duchenne to receive a positive opinion from the CHMP. Although
no equivalent conditional approval program is available in the
US, PTC will continue to engage with regulators to determine a
path forward for access for all nmDMD patients who may benefit
from Translarna.
»» PTC Therapeutics is conducting the Ataluren Confirmatory
Trial in Duchenne muscular dystrophy (ACT DMD), a Phase 3
trial of the drug in patients with nmDMD. This randomized,
double-blind, placebo-controlled trial is designed to confirm the
safety and efficacy results seen in its Phase 2b study. The study
will enroll 220 participants at approximately 58 sites in North
America, South America, Europe, Israel, Asia and Australia.
Successful results of this trial will provide the basis for a full
approval decision in the EU and the US as well as other countries
to follow.
»» Studies for nmDMD patients previously enrolled in Translarna
trials are ongoing in each of their countries.
»» Translarna is also being studied in patients with cystic fibrosis
(CF) in the recently opened Ataluren Confirmatory Trial in Cystic
Fibrosis (ACT CF).
•What is nonsense mutation?
A nonsense mutation is a premature stop signal in the genetic
code that interrupts the production of a protein. Proteins are
essential to the proper working of every cell in the body. Nonsense
mutations result in incomplete proteins that do not function
properly and in turn cause a genetic disorder. For example, in
nmDBMD, the muscle protein dystrophin is incomplete and
non-functional, leading to muscle wasting and progressive loss of
muscle strength.
•What is the goal or purpose of this research?
Translarna is an investigational new drug that is designed
to enable the formation of a functioning protein in a patient with
•Who is funding this research?
Translarna was discovered and developed by PTC Therapeutics.
Its development has been supported by the FDA Office of Orphan
Products Development, Parent Project Muscular Dystrophy, the
Muscular Dystrophy Association, Cystic Fibrosis Foundation
Therapeutics Inc., and the National Center for Research Resources.
•When will Translarna be commercially available?
Translarna is an investigational new drug that is currently only
available through clinical trials. It has received a positive opinion
from the CHMP which would normally lead to conditional approval
in the EU and certain other European countries within three
months. It has not been approved for use by regulatory authorities
in any other countries and thus cannot be legally purchased for
use by a patient. Based on estimates regarding patient enrollment,
initial, top-line data from the Phase 3 clinical trial are expected in
mid-2015. If trial results support approval and FDA approves our
application, Translarna could be available in the US as early as
the second half of 2016. PTC plans to apply for approval in other
countries following US approval. Conditional approval in the EU
could make it available there as early as 2014, pending country by
country final activities that make access possible.
•How can I find out if Translarna would benefit my
child?
Approximately 13% of boys with Duchenne have a nonsense
mutation. You should discuss genetic testing with your child’s
physician or a genetic counselor. Usually, only a small amount of
blood is required to perform the test. The blood sample must be
sent to a specialized laboratory that has expertise in Duchenne.
Translarna is specifically for patients with a nonsense mutation. It
will not benefit patients whose Duchenne is caused by a different
mutation, such as a deletion or duplication.
•Where can I learn more about Translarna?
»» You can learn more about Translarna at www.ptcbio.com.
Information about ACT DMD is available on that site as well as
on www.clinicaltrials.gov (search term: NCT01826487) and
www.DuchenneConnect.org.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
a genetic disorder due to a nonsense mutation. Translarna is taken
orally and has the potential to treat the root cause of the disorder
by overriding the premature stop signal so that a functional protein
can be made. It does not alter a patient’s genetic code or introduce
genetic materials into the body.
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CAT1000
Catabasis’ Lead Program for Targeting Inflammation
•What stage is this research?
Phase 1 studies in adults with CAT-1004 have been completed. A
clinical trial in boys with Duchenne is in the planning stages.
•Where is this research being done and who is funding
this research?
This research is being done by Catabasis, a private
biopharmaceutical company leveraging pathway pharmacology
to develop new compounds for the treatment of rare diseases,
including Duchenne muscular dystrophy. The MDA Venture
Philanthropy program recently awarded a grant to Catabasis
to support preclinical studies in models of Duchenne muscular
dystrophy.
•Where can I learn more about this research?
»» You can learn more about this research at
www.catabasispharma.com.
»» www.ClinicalTrials.gov will post the clinical trial once it is actively
recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the goal or purpose of this research?
CAT-1004 is an anti-inflammatory agent to be given orally, which is
in development to target inflammation. Inflammation plays a critical
role in the degeneration process in Duchenne, and decreasing
inflammation is an approach that could modify the course of
Duchenne muscular dystrophy.
•What is the current state of this research and what
steps need to be completed before moving into a
clinical trial?
»» Catabasis has recently completed a series of studies in animal
models of Duchenne in which CAT-1004 and similar compounds
reduced inflammation and improved muscle function.
»» Catabasis is planning an initial clinical trial with CAT-1004 in boys
with Duchenne.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
While it is difficult to estimate the exact timing, clinical trials in boys
with Duchenne could start in the next year.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research would
be located. Many complex factors go into determining the right
location(s) for a clinical trial.
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria would be
for a future clinical trial. Since the effects of CAT-1004 would not be
limited to certain mutations, CAT-1004 can be tested in boys with all
genetic mutations of Duchenne and Becker.
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DRISAPERSEN
Re-dosing program for Duchenne patients who previously participated in the drisapersen clinical studies to
skip exon 51
•What kind of program is this?
»» Following positive feedback from patients and investigators
regarding the willingness and desire of patients to go back
on drisapersen and encouraging analyses of its clinical trial
data, Prosensa intends to re-dose patients who previously
participated in the drisapersen clinical studies (subject to them
meeting safety entry criteria).
•Where can I learn more?
»» You can learn more at www.prosensa.com.
»» If you previously participated in a drisapersen clinical program,
your investigator at the study site can provide you with more
information.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•When will this program start?
We remain on track to re-dose the first group of boys in the 3rd
quarter of this year. Re-dosing will take a staged approach; patients
will resume dosing under new or existing treatment protocols or via
an expanded access program.
•In which countries will re-dosing start?
We plan to initiate dosing in stages, initially this will occur at sites in
both North America and Europe, and we are actively working with
these sites and investigators to execute these plans.
•Could you provide more information about participating
sites in North America?
»» In the US and Canada, eligible boys are those who completed
DEMAND V (DMD114876), those that are currently in the
DMD115501 protocol and US/Canadian boys who participated in
the DEMAND IV study (DMD114349).
»» More detailed information about the re-dosing protocol for the
first group of boys in Europe will follow.
•Will participation in the re-dosing program require the
same number of visits to the sites?
Prosensa is investigating the use of home dosing as an option to
reduce visits to sites. Home dosing will be implemented where
possible, subject to site and the individual’s requirements and
applicable health care regulations.
•Will participation in the re-dosing program require
biopsies to be taken?
With the aim of minimizing the burden of participating in the redosing program for patients, no biopsies will be taken.
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Exon Skipping for DMD
(Sarepta Therapeutics)
Exon Skipping by Phosphorodiamidate Morpholino Oligomers (PMO) to produce functional dystrophin protein.
•What is exon skipping?
Duchenne muscular dystrophy is caused by a genetic mutation or
error in the gene that carries instructions for the [production of the]
essential muscle protein dystrophin. Exon skipping is a possible
way to help the body make working dystrophin protein again.
Most mutations that cause Duchenne result in the portion of the
protein following the mutation to be made incorrectly. This leads to
production of a non-functional dystrophin protein. The idea behind
exon skipping is to skip over a section of the gene, called an exon,
to enable correct production of the portion of the protein following
the mutation. This results in a shorter – but still functional – form of
dystrophin.
•What PMO-based exon skipping therapies are in
development?
There are eight investigational exon skipping therapies in different
stages of clinical or preclinical (laboratory) testing. Following is a list
of the current Sarepta pipeline of exon skipping drug candidates.
Exon Skipping
Candidate
Exon Skip
Examples of Potentially Repairable
Deletion Mutations
Eteplirsen
Exon 51
45-50, 47-50, 48-50, 49-50, 50, 52,
52-63
SRP-4053
Exon 53
10-52, 45-52, 47-52, 48-52, 49-52,
50-52, 52
SRP-4045
Exon 45
12-44, 18-44, 44, 46-47, 46-48, 4649, 46-51, 46-53, 46-55
SRP-4044
Exon 44
10-43, 19-43, 30-43, 35-43, 36-43,
40-43, 42-43, 45, 45-54
SRP-4050
Exon 50
51, 51-53, 51-55
SRP-4052
Exon 52
53, 53-55, 53-57, 53-59, 53-60
SRP-4055
Exon 55
47-54, 48-54, 49-54, 50-54, 52-54,
54, 56, 56-62
SRP-4008
Exon 8
3-7, 4-7, 5-7, 6-7
Additional less common genetic mutations that may be amenable
to treatment with an exon-skipping therapy may not be listed in the
table above. Genetic testing is required to determine if a patient
is eligible for exon skipping. Patients and families can speak with
their healthcare provider to obtain genetic testing, review test
results and learn if they may be a candidate for an exon skipping
clinical trial. Through the Decode Duchenne Program administered
by PPMD and supported by Sarepta, genetic testing may be
available at no charge to eligible patients in the United States who
are unable to access testing due to barriers such as cost or lack of
insurance coverage. Eligibility criteria can be found by emailing
[email protected] or by visiting
www.duchenneconnect.org.
•What stage is this research?
A Phase IIb clinical trial with eteplirsen was completed in 2012.
All boys who participated in the initial 24-week placebo-controlled
stage of the Phase IIb study are receiving treatment with eteplirsen
in a long-term, open-label extension study. Clinical results through
120 weeks – or more than two years – of treatment were recently
reported at the American Academy of Neurology Annual Meeting
in April 2014. Additional clinical trials of eteplirsen, SRP-4053 and
SRP-4045 are planned to begin this year and early next year.
•Who is sponsoring this research?
Research of eteplirsen and other PMO-based exon skipping
therapies in development is led and sponsored by Sarepta
Therapeutics, a biopharmaceutical company focused on the
discovery and development of novel RNA-based therapeutics for
rare diseases. Sarepta has partnered with the Duchenne community
to advance exon-skipping technology for more than a decade,
and is committed to exploring the potential of this technology to
address all of the boys and young men with Duchenne who could
potentially benefit from an exon-skipping therapy, including those
with rare genetic mutations.
•What additional clinical trials are planned?
Following is a list of planned clinical trials of eteplirsen, SRP-4053
and SRP-4045. Please note that this information is subject to
change. Additional eligibility criteria and outcome measures may
apply.
(continued on p. 22)
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(continued from p. 21)
•Open-label confirmatory clinical study of eteplirsen
»» Study design: open-label historically controlled (no placebo)
clinical study. Two cohorts are planned including a treated
group of boys with deletion mutations amenable to exon
51 skipping and an untreated group of boys with deletion
mutations not amenable to exon 51 skipping.
»» Key eligibility criteria: boys aged 7 to 16 years with eligible
genotypes who are able to walk a minimum distance and
are on a stable corticosteroid regimen.
»» Key outcome measures: 6-minute walk test, dystrophin as
assessed by muscle biopsy (treated group only), safety and
other measures.
»» Clinical sites: multiple clinical sites in the United States.
»» Timing: dosing planned to begin in the third quarter of
2014.
•Open-label clinical study of eteplirsen in patients
less than 7 years old
»» Study design: open-label (no placebo) clinical study.
»» Key eligibility criteria: boys aged 4 to 6 years with deletion
mutations amenable to exon 51 skipping.
»» Key outcome measures: dystrophin as assessed by muscle
biopsy, safety and other measures.
»» Clinical sites: multiple clinical sites in the United States.
»» Timing: dosing planned to begin in the fourth quarter of
2014.
•Open-label clinical study of eteplirsen in patients
not able to walk a minimum distance
»» Study design: open-label (no placebo) clinical study.
»» Key eligibility criteria: boys aged up to 21 years old with
deletion mutations amenable to exon 51 skipping who are
unable to walk a minimum distance or are non-ambulatory
and have stable heart and lung function.
»» Key outcome measures: safety and other measures.
»» Clinical sites: multiple clinical sites in the United States.
»» Timing: dosing planned to begin in the fourth quarter of
2014.
•Open-label clinical study of SRP-4053 (Europe
only)
»» Study design: open-label clinical study, with a placebocontrolled dose-escalation lead-in period.
»» Key eligibility criteria: boys aged 6 to 15 years with deletion
mutations amenable to exon 53 skipping who are able to
walk a minimum distance and are on a stable corticosteroid
regimen.
»» Key outcome measures: 6-minute walk test, dystrophin as
assessed by muscle biopsy, safety, and other measures.
»» Clinical sites: multiple clinical sites in the United Kingdom,
France and Italy
»» Timing: dosing planned to begin in the third quarter of
2014.
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•Placebo-controlled clinical study of SRP-4053
and SRP-4045
»» Study design: The design of this study is currently in
development, and will be confirmed with the U.S. Food and
Drug Administration.
»» Key eligibility criteria: boys aged 7 to 16 years with deletion
mutations amenable to exon 53 or exon 45 skipping who
are able to walk a minimum distance and are on a stable
corticosteroid regimen.
»» Key outcome measures: 6-minute walk test, dystrophin as
assessed by muscle biopsy, safety and other measures.
»» Clinical sites: multiple clinical sites in North America and
Europe.
»» Timing: dosing planned to begin in the first quarter of
2015.
•Can patients who previously received drisapersen
participate in clinical studies of eteplirsen?
Patients previously treated with drisapersen may be eligible to
participate in eteplirsen clinical studies with a minimum 24-week
(6 month) wash-out period and if they meet other study eligibility
criteria.
•What are the recent results that have been reported
from the ongoing Phase IIb extension study of
eteplirsen?
»» Recently reported results from the Phase IIb clinical study
of eteplirsen showed statistically significant and clinically
meaningful changes on measures of dystrophin production and
walking ability at 48 weeks. In addition, through 120 weeks of
treatment with eteplirsen, patients did not report any clinically
significant treatment-related adverse events.
»» In the study, dystrophin production was assessed by muscle
biopsy before starting treatment and twice on treatment. After
the last muscle biopsy at week 48, there was a statistically
significant increase in dystrophin-positive muscle fibers to
47.0 percent of normal (p≤0.001) among the eight patients
who were treated once weekly with either 30 mg/kg or 50 mg/
kg of eteplirsen. The four patients in the placebo/delayedtreatment group, who received a placebo for 24 weeks before
initiating treatment with eteplirsen at 30 mg/kg or 50 mg/kg, also
demonstrated a statistically significant increase in dystrophinpositive fibers to 38.3 percent of normal (p≤0.009) at week 48,
after 24 weeks of treatment.
»» Results on endpoints measuring efficacy through 120 weeks
– or more than two years of treatment – showed a general
stabilization of walking ability in patients who remained
evaluable on the 6-minute walk test. Through 120 weeks,
evaluable patients treated with 30 mg/kg or 50 mg/kg showed
less than a 5 percent decline (13.9 meters) in walking ability from
baseline. After experiencing a substantial decline early in the
study, the placebo/delayed-treatment group also demonstrated
stabilization in walking ability for more than 1.5 years, from
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Week 36 through 120, the period from which meaningful levels
of dystrophin were likely produced, with a decline of 9.5 meters
over this timeframe. Two patients in the 30 mg/kg group were
not evaluable and were excluded from the analysis because they
showed rapid disease progression upon enrollment in the study.
»» In addition, pulmonary function tests were included in the study
as exploratory efficacy endpoints, and results through 120 weeks
showed a general stabilization of respiratory function.
•Does Sarepta plan to apply for the approval of
eteplirsen based on the Phase IIb clinical trial results?
Based on guidance from the U.S. Food and Drug Administration
(FDA), Sarepta plans to submit a New Drug Application for
eteplirsen by the end of 2014.
•When might FDA approval of eteplirsen be expected?
If the NDA filing for eteplirsen is accepted and granted a 6-month
priority review (versus a standard 10 month review), an approval
decision is possible in the second half of 2015.
• Where can I learn more about clinical studies involving
PMO-based exon skipping therapies from Sarepta?
»» Information about Sarepta’s clinical trials will be posted on www.
ClinicalTrials.gov as it becomes available.
»» Additional information is available on Let’s Skip Ahead, an online
resource center for the Duchenne community from Sarepta
available at www.skipahead.com. Visitors to Let’s Skip Ahead can
sign up to receive email updates from Sarepta, including news
and information about clinical trials. Information is also available
on Sarepta’s corporate website at www.sarepta.com.
»» Patients and families can also contact Sarepta at skipahead@
sarepta.com or 855-DMD-SKIP (855-363-7547).
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ISOFEN 3
A combination drug for the treatment of Duchenne Muscular Dystrophy
•What stage is this research?
»» This upcoming study will be a phase 2 clinical trial. Isofen3 is a
combination of Ibuprofen (a non-steroidal anti-inflammatory
agent-NSAID) and isosorbide dinitrate (a drug that releases
nitric oxide). Each of these is licensed worldwide for individual
use.
•What is the goal or purpose of this study?
The goal of this study is to determine if the combination of two
drugs, Ibuprofen and isosorbide dinitrate, is capable of slowing the
progression of Duchenne. In animal studies the drug combination
has been shown to help with muscle repair and myogenesis, with
reducing inflammation, and with enhancing muscle function. A pilot
study in non-ambulant patients with either Becker or Duchenne
or Limb-Girdle muscular dystrophy plus two phase I studies in
healthy volunteers showed the drug to be safe and tolerable with
improvement in some of the measures studied.
•Will I get paid for participating in this study? Is there
any funding to help with travel?
No, this study is on a voluntary basis. Presently there is no funding
for travel, but funding is being sought.
•Why should I consider participating in this study?
While no personal benefit can ever be guaranteed by participation
in a clinical trial, there are other benefits, including allowing you
to play an active role in your own health care (or that of your
child), gaining access to new research treatments before they are
widely available and having access to medical specialists that are
normally not available to you or your child, and helping others by
contributing to the better understanding of Duchenne and Becker.
•W here can I learn more?
»» You can learn more about this study at www.DuchenneConnect.org and www.ClinicalTrials.org.
•Who is funding this study?
This study is funded in part by the European Union and there is
ongoing fundraising by Duchenne Alliance.
•Who is eligible to participate in this study?
»» To participate in this study you must be above 6 years with a
confirmed diagnosis of Duchenne, non-ambulatory and be able
to meet certain heart and respiratory function criteria, with no
recurrent headaches. You will need to pass an initial screening
visit and meet all inclusion criteria and sign a consent form.
•How long will this study last, and will I have access to
the drug/treatment once the study has ended?
The anticipated length of the study is a total of 42 months with
enrollment being 6 months and the study lasting for 36 months.
Depending on the results, you may have access to the drug while
data is being analyzed and before FDA approval.
•Where does this study take place?
The study site locations are still being determined.
•How many visits to the study site are necessary?
There are 14 visits in which you will receive non invasive
assessments (except blood draw) of your health status. All visits
must be done at a study site, as specific assessment of your muscle
function has to be completed by a physiatrist trained in the study
procedure.
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PF-06252616
Development of a myostatin inhibitor as a potential anabolic therapy for the muscular dystrophies.
•What stage is this research?
»» A Phase 1 clinical trial in healthy volunteers is in progress – please
see www.ClinicalTrials.gov and search “PF-06252616” for details.
The purpose of the study is to determine safety, tolerability,
pharmacokinetics and pharmacodynamics of PF-06252616 in
healthy subjects.
»» A clinical trial of PF-06252616 in boys with Duchenne is in
the planning stages and remains dependent upon the final
outcome(s) of the phase 1 clinical trial. The current plan is to
initiate dosing by the end of this year.
•Where can I learn more about PF-06252616?
»» The current clinical study is posted on
www.ClinicalTrials.gov. Please look for updates later this year for
details on the upcoming study in Duchenne.
»» Visit Pfizer.com/pipeline, Pfizer’s online database where you learn
more about our portfolio of new medicines and find more about
our Research and Development efforts around the world.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is PF-06252616?
»» PF-06252616 is an experimental monoclonal antibody that,
based on the proposed mechanism of action, has the potential
to increase muscle mass in patients with evidence of reduced
muscle mass.
»» Preclinical evidence of increased muscle size and function has
been demonstrated in mice and nonhuman primates.
»» Evaluation of human safety and evidence of beneficial effects in
healthy adults is ongoing.
•Who is funding this research?
At this time, Pfizer is fully supporting the clinical development of
PF-06252616.
•What will the inclusion (enrollment) criteria be for
future trials?
Planning for possible future clinical studies is still in progress and
specific inclusion criteria for future clinical studies has not been
determined.
•Where will Phase 1b / 2 trials take place? Will there be
study sites in the US?
At this early stage, the current planning is for the clinical trial to be
conducted at a small number of selected sites in the US, UK, and
Europe. Additionally, all applicable regulatory approvals would
need to be obtained in each region prior to any study initiation.
•Is Pfizer committed to Duchenne?
»» Our investment in Duchenne extends beyond PF-06252616.
Although this is our most advanced compound we are actively
studying compounds with diverse mechanisms of action and
modalities to help Duchenne patients and their families.
»» We have been very active in building our internal Duchenne
efforts including: recruitment of additional scientists and
clinicians with experience of Duchenne, evaluating additional
programs for Duchenne, designing clinical trials, and exploring
research collaborations.
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SMT C1100
A Small Molecule Utrophin Upregulator for Duchenne
•What stage is this research?
A Phase 1b clinical trial in patients with Duchenne completed
earlier in 2014 with preliminary results being reported in May 2014.
Further patient trials are planned to start later in 2014.
•What is the goal or purpose of this research?
»» Utrophin is a naturally occurring protein that is similar to
dystrophin and scientists have shown that modulating its
production can compensate for the missing dystrophin and help
to restore healthy muscle function.
»» SMT C1100 is a small molecule utrophin modulator that has the
potential to benefit all Duchenne patients. This is Summit’s most
advanced utrophin modulator with next generation molecules
also in development. The approach of utrophin modulation
is anticipated to be complementary to other therapeutic
approaches currently in development.
•Who is funding this research?
The research is being supported by investors, the Duchenne
community and the UK government.
•What will the inclusion (enrollment) criteria be for the
upcoming trial?
Since reporting of the Preliminary results from the Phase 1b trial the
future plans are currently under discussion and the inclusion criteria
have not yet been finalized. Further information will be made
available in due course.
•Where will the trial take place? Will there be study
sites in the US?
Clinical trials could take place in either Europe or the US or both,
and the harmonization program between the
FDA and EMA allows for trial data from one region to be used in
clinical trial applications in the other.
•Where can I learn more about SMT C1100?
»» You can learn more at www.summitplc.com.
»» www.ClinicalTrials.gov will post the next phase of patient trials as
soon as they are recruiting.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the current state of this research?
Preliminary results from a Phase 1b clinical trial in boys aged
between 5 and 11 years old were reported in May 2014. The
study showed SMT C1100 was safe and well tolerated at all doses
tested. All the boys had variable blood plasma level of SMT
C1100 with only two of the boys achieving levels similar to those
of the adult volunteers in the 2012 Phase 1 study. Initial evidence
suggests the variability in drug uptake may be due to differences
in diet and to other disease-related factors. In addition, in the
majority of patients creatine kinase levels were reduced during
dosing. Further evaluation of the data from this trial is on-going
and it is expected further results will be reported at future
scientific meetings.
»» Preclinical studies established that SMT C1100:
»» Increases utrophin protein in dystrophin deficient muscle
cells from Duchenne patients to levels expected to have
significant therapeutic benefit
»» Significantly increases the amount of utrophin in the mdx
mouse model of Duchenne
»» Improves whole muscle function in a study with an endpoint
similar to the 6 minute walk test
»» Reduces muscle degeneration, fibrosis and chronic
inflammation
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Biglycan
A Unique Utrophin Upregulator
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to clinical
trials involving people yet.
•Where is this research being done and who is funding
this research?
This research is taking place at Tivorsan and in the laboratory of
Dr. Justin Fallon at Brown University. This work was funded by
PPMD’s End Duchenne GAP program. Current funding is coming
from private investors in Tivorsan, recently awarded PPMD and
MDA foundation grants to Tivorsan, and an NIH grant (“UO1
mechanism”) to Dr. Fallon.
•What is the goal or purpose of this research?
The goal of this research is to use a protein called recombinant
human biglycan (rh-biglycan) to increase utrophin and neuronal
NOS (nNOS) at the muscle cell membrane, resulting in reduced
muscle damage and improved muscle function. Utrophin is a
molecule that is related to dystrophin in structure and form and
can “stand in” for dystrophin when present in larger than normal
quantities.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research would
be located. Many complex factors go into determining the right
location(s) for a clinical trial.
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria would be for
a future clinical trial. However, TVN-102 therapy is applicable to all
forms of Duchenne, regardless of the underlying mutation.
•Where can I learn more about this research?
»» You can learn more about this research at
www.Tivorsan.com.
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the current state of this research?
»» Independent laboratories have reproduced the beneficial effect
of rh-biglycan (rhBGN) in mice that lack dystrophin. A reliable
method to manufacture the protein has been established and a
scalable production process is being optimized. Additional preclinical studies are currently in process.
»» An optimized version of rhBGN has been developed and this
molecule, called TVN-102, has been designated the lead clinical
candidate.
»» Tivorsan has initiated discussions with FDA to define its INDenabling preclinical studies and early clinical development plan.
•What steps need to be completed before moving into a
clinical trial?
»» Manufacturing of TVN-102 needs to be scaled-up to produce
quantities and purity necessary for use in humans.
»» Safety testing must be completed and the pharmacology
properties of TVN-102 must be determined.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
12-18 months.
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BMS-986089
Bristol-Myers Squibb’s Candidate for Myostatin Inhibition
•What is BMS-986089?
BMS-986089 is an investigational protein that binds to myostatin.
Myostatin is a protein produced primarily in skeletal muscle cells
that prevents muscle cell growth and differentiation. Animals
lacking myostatin or animals treated with substances that block the
activity of myostatin have significantly larger muscles.
•What stage is this research?
BMS-986089 is in a Phase 1 clinical trial in healthy volunteers that
began in 2014.
•Where is this research being done?
This research is being done by Bristol-Myers Squibb (BMS).
Information regarding ongoing clinical trials can be found on www.
ClinicalTrials.gov.
•What is the goal or purpose of this research?
The primary goal of the Phase 1 study is to assess the safety,
tolerability, immunogenicity, drug levels, and drug effects of single
and multiple doses BMS-986089 in healthy adult and elderly
subjects.
•When can we expect to see clinical trials for patients
with muscular dystrophy?
The timing of a Phase 2 study will depend on the completion of
the Phase I studies. Up-to-date information regarding ongoing
clinical trials can be found at www.ClinicalTrials.gov.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research would
be located. BMS will make this information available on www.
Clinicaltrials.gov.
•Who would be eligible to participate in a clinical trial?
It is too early to know what the eligibility criteria will be for a future
clinical trial. BMS will make this information available on www.
ClinicalTrials.gov.
•Where can I learn more about this research?
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
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Carmeseal-MD
Carmeseal-MD (Poloxamer 188 NF)
•What stage is this research?
Our research is pre-clinical, meaning it has not advanced to
clinical trials involving people yet. We have completed a pre-IND
(Investigational New Drug) meeting with the FDA and plan to start
a clinical trial next.
•Where is this research being done and who is funding
this research?
Our pre-clinical development work is conducted by Phrixus
Pharmaceuticals in our Ann Arbor laboratories. Our work to date
has been funded by the National Institutes of Health (NIH) through
SBIR grants, the Biosciences Research and Commercialization
Center, as well as, Coalition Duchenne and Duchenne Alliance.
Phrixus studies are currently supported by the SMARTT (Science
Moving towards Research Translation and Therapy) program at the
NIH which is providing regulatory support through RTI International
and preclinical studies at SRI International.
•What is the goal or purpose of this research?
Our goal is to demonstrate that Carmeseal-MD has beneficial
effects in patients with Duchenne and Becker muscular dystrophy:
An improvement in cardiac and respiratory function via protection
of heart muscle and diaphragm. Carmeseal-MD acts as a
molecular band-aid by binding to and then sealing microscopic
tears in muscle cells caused by the lack of functional dystrophin.
This prevents the uncontrolled leakage of calcium which in turn
increases the performance of heart muscle and diaphragm and
prevents their degeneration.
•Where would a clinical trial take place?
We are already collaborating with leading research clinicians
and have verbal commitments from several to conduct the first
trials. High likelihood centers include University of Chicago, IL
(Beth McNally, on our SMAB); Nationwide, Columbus, OH (Linda
Cripe, on our SMAB); Cincinnati Childrens (John Jefferies and Jeff
Towbin, supported our pre-IND meeting); UPMC, Pittsburgh, PA
(Jonathan Finder, supported our pre-IND meeting); and University
of Michigan, Ann Arbor, MI (Mark Russell).
•Who would be eligible to participate in a clinical trial?
Carmeseal-MD is expected to be useful for all patients with
Duchenne or Becker, regardless of genetic mutation. While
inclusion and exclusion criteria still need to be finalized, we
expect enrollment of non-ambulatory patients with early cardiac
and respiratory dysfunction. This approach maximizes our chances
of seeing a positive effect and provides a unique clinical trial
opportunity for patients who cannot perform the six-minute walk
test.
•Where can I learn more about this research?
»» Please see www.phrixuspharmaceuticals.com/index.htm,
www.ParentProjectMD.org under the Advance Research tab and
www.DuchenneConnect.org.
•What is the current state of this research?
Carmeseal-MD has been shown to be effective in three dystrophic
animal models (mdx and mdx/utr double-knock out mice, GRMD
dogs) and two models of heart failure (rats with surgically induced
heart failure, micro-embolism induced dog heart failure model).
Nearly all pre-clinical studies are complete, including three-month
GLP toxicology studies in rats and dogs.
•What steps need to be completed before moving into a
clinical trial?
We need to complete enzyme inhibition studies, which are required
by the FDA. We also need to prepare and file our IND (pre-IND
meeting complete).
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
3-6 months.
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DMD: iPS Cell Therapy
Duchenne Muscular Dystrophy: iPS Cells and Therapeutic Applications
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to clinical
trials involving people yet.
•Where is this research being done and who is funding
this research?
This research is being done in the lab of Dr. Rita Perlingeiro at
the University of Minnesota and is funded by grants from Parent
Project Muscular Dystrophy and MDA.
•Where can I learn more about this research?
»» You can learn more about this research at the website for Dr.
Perlingeiro’s lab: http://www.med.umn.edu/lhi/research/
PerlingeiroLab/index.htm
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the goal or purpose of this research?
Induced pluripotent stem cells (iPS) are adult cells that have been
reprogrammed to an embryonic stem cell-like state. There has
been tremendous excitement for the therapeutic potential of iPS
cells in treating genetic diseases. Our current research builds on our
successful proof-of-principle studies for Duchenne performed with
mouse wild-type and dystrophic iPS cells as well as control (healthy)
human iPS cells. These studies demonstrate equivalent functional
myogenic engraftment to that observed with their embryonic
counterparts following their transplantation into dystrophic mice.
Our goal now is to apply this technology to iPS cells obtained
from patients with Duchenne by establishing methods to
genetically correct the disease, and to evaluate the regenerative
potential of resulting genetically corrected iPS cells in dystrophic
mice. We are also developing a protocol for making iPS cells and
their muscle derivative using integration-free methods.
•What steps need to be completed before moving into a
clinical trial?
Safety and efficacy must be established in our pre-clinical work
before moving into a clinical trial.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
3+ years.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research would
be located. Many complex factors go into determining the right
location(s) for a clinical trial.
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria would be for
a future clinical trial.
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DT-200
DT-200, a selective androgen receptor modulator (SARM) to improve muscle strength and function in Duchenne
Muscular Dystrophy, and other myopathies
•What stage is this research?
The DT-200 development program has completed 3 initial phase 1
trials in 78 healthy adult volunteers showing the SARM is safe and
well tolerated for up to 14 days treatment. Testing in Duchenne has
not yet begun.
•Where is this research being done and who is funding
this research?
DT-200 is wholly owned by DART Therapeutics, who are leading the
clinical development program. DART is currently seeking funding
for the next development step, a 4-week Proof of Concept
Clinical (POC) trial.
•What is the goal or purpose of this research?
DT-200 is a selective androgen receptor modulator (SARM).
Selective androgen receptor modulators (SARMs) have been
developed to mimic the muscle building effects of androgens
(testosterone), without their undesirable side effects. DART hopes
that the more precise action of this drug will confer better, longer
term safety and tolerability in both adult and pediatric muscle
diseases compared to androgens. DT-200 is effective in multiple
animal models, including mice that lack dystrophin. Importantly,
compared to other SARMs in clinical development, DT-200 shows
significantly greater preference for skeletal muscle. Accordingly,
DART is developing DT-200 with the objective of improving
muscle strength and function in both adult muscle diseases, such
as Charcot Marie Tooth disease (CMT) and Facioscapulohumeral
Muscular Dystrophy (FSHD), and in pediatric myopathies, such as
Duchenne and Spinal Muscle Atrophy (SMA).
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
If the POC trial in healthy adult subjects is positive, DART
anticipates initiation of clinical trials in adult and pediatric muscle
diseases within six months from the conclusion of the POC trial.
•Where would a clinical trial take place?
Phase 2 trials would be initiated in both the US and Europe.
•Who would be eligible to participate in a clinical trial?
It is too early to know what the inclusion criteria would be for a
future clinical trial.
•Where can I learn more about this research?
»» You can learn more about DT-200 (and other DART initiatives) by
consulting the DART website at:
http://dartrx.com
»» www.ClinicalTrials.gov will post all DT-200 clinical trials once they
are actively recruiting subjects.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the current state of this research and what
steps need to be completed before moving into a
clinical trial?
Three phase 1 studies with DT-200 were successfully completed in
Belgium and Germany, having confirmed the product is safe and
well tolerated at the once daily oral dose of 0.5 mg. DART met
with the UK Regulatory Agency (MHRA) in May 2013 for scientific
advice and input into the design of a Proof of Concept clinical trial.
DART plans to initiate this 4-week POC trial in the UK in Q4 2013
in healthy adult volunteers. The main objective of the POC trial
is first to evaluate DT-200’s ability to increase mass, strength and
function of healthy muscle. It is anticipated the POC trial will take
approximately 9 months to complete.
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GALGT2 Gene Therapy
Viral gene transfer for GALGT2 as a surrogate gene therapy for Duchenne
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to clinical
trials involving people yet. However:
»» The investigators have completed pre-IND interactions with the
FDA, and the study has been favorably reviewed by the NIH
Recombinant Advisory Committee.
»» IND-enabling toxicology and biodistribution studies have been
completed.
»» An IND application will be submitted to the NIH in June 2014.
•What steps need to be completed before moving into a
clinical trial?
»» Funding for production of the clinical vector lot (the virus to be
delivered to patients) needs to be obtained.
»» Funding for a clinical trial must be obtained. (Development and
preclinical testing has been funded by the NIH.)
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
0-6 months (based upon successful funding for the clinical vector lot
production).
•What is the goal or purpose of this study?
»» The goal of this study is to introduce the GALGT2 gene into the
body by using a viral vector (an adeno-associated virus, or AAV).
Because the virus carries GALGT2 rather than a version of the
dystrophin gene, it is a “surrogate” gene therapy.
»» GALGT2 encodes the protein GalNAc transferase (beta 1,4
–N-acetylgalactosamine galactosyltransferase). This is an enzyme
that transfers a complex sugar molecule onto a few specific
proteins, including dystroglycan.
»» Usually, GalNAc transferase is found only at the neuromuscular
junction (NMJ), where some components of the dystroglycanassociated protein complex are different than elsewhere in
muscle. Importantly, at the NMJ, utrophin is present instead of
dystrophin.
»» In the mdx mouse, viral gene transfer of GALGT2 results in
expression of GalNAc transferase across the entire muscle
membrane (instead of just at the NMJ), as well as upregulation of
utrophin across the entire muscle fiber.
»» In the mdx mouse, this expression can correct muscle
functional deficits to the same degree as does microdystrophin
gene expression. Furthermore, overexpression of GALGT2
corrects muscle pathology in mouse models of other muscular
dystrophies, including LGMD2A and congenital muscular
dystrophy (MDC1A).
»» This AAV viral vector is known not to cause disease. The vector
includes a gene promoter that is specifically activated in muscle
tissue, so the gene should not be significantly activated in
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other tissues. The AAV-delivered gene is not integrated into
chromosomal DNA.
»» Because the GalNAc transferase is already expressed in patients,
there should not be any immune response generated to the
transferred gene’s protein product.
•Who is eligible to participate in this study?
The first-in-human gene transfer trial will consist of intramuscular
injections into the extensor digitorum brevis (EDB) muscle on the
side of the foot in recently non-ambulant patients over the age of
9 years.
•What do I have to do if I decide to participate in this
study?
»» This study involves frequent visits to Nationwide Children’s
Hospital (NCH) in Columbus, OH. We anticipate that the study
will require 13 visits to NCH over two years. We will be seeking
funding to help pay for travel.
»» Muscle biopsy will be performed on each EDB muscle. Biopsy
of the uninjected muscle will be performed at baseline; biopsy
of the injected muscle will be performed at either 6 or 12 weeks
after injection.
• How long will this study last, and will I have access to
the drug/treatment once the study has ended?
»» The study will require follow up for two years after injection.
»» Patients who participate in the initial intramuscular injection
study are unlikely to be eligible for follow up vascular delivery
studies, due to the expected development of antibodies to the
viral capsid.
»» If the treatment were to be approved by the FDA,
plasmapheresis to clear anti-AAV antibodies may allow future
treatment, although this cannot be guaranteed at present.
•Why should I consider participating in this study?
»» The initial first-in-human intramuscular injection study is
necessary to confirm the expression of the GALGT2 gene
in humans, and to assess the safety of this expression. This
information is needed to proceed to a future efficacy trial.
»» There is no likelihood of personal benefit by participation in this
initial clinical trial, but there may be other benefits. These include
allowing you or your child to participate in the advancement of a
new and promising therapy, and helping others by contributing
to the better understanding of Duchenne and Becker.
•Where can I learn more about this study?
You will be able to learn more about this study at
www.DuchenneConnect.org and www.ClinicalTrials.gov, and
www.nationwidechildrens.org/center-for-gene-therapy
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Laminin-111
Laminin-111, Integrin and Utrophin as a Potential Therapy for Duchenne Muscular Dystrophy
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to clinical
trials involving people yet.
•Where is this research being done and who is funding
this research?
»» LAM-111 research for the treatment of MDC1A is currently
being performed at the University of Nevada, Reno, and Alexion
Pharmaceuticals in Connecticut.
»» Prothelia’s funding has been primarily through US Government
grants. Prothelia has received funding from several advocacy
groups including Struggle Against Muscular Dystrophy (SAM),
PPMD’s End Duchenne GAP program, and Hope for Gus. The
current effort has shifted focus towards the use of LAM-111 for
treatment of MDC1A and is being funded by Alexion.
•Where would a clinical trial take place?
There are several candidate locations including hospitals in
Cincinnati (OH), Boston (MA), and Rochester (NY). However, there
are many complex factors that go into determining the right
location/countries for a clinical trial and further determinations will
be made once we approach clinical development.
•Where can I learn more about this research?
»» www.Prothelia.com
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the goal or purpose of this research?
Animal data shows that human laminin-111 upregulates (increases)
the molecules integrin and utrophin. Both integrin and utrophin
work together to restore lost muscle cell adhesion when dystrophin
is missing at the muscle membrane.
•What is the current state of this research?
This project is in preclinical development with demonstrated
effectiveness in the mdx and dyW mouse models of DMD and
MDC1A, respectively. Current efforts are focused on MDC1A,
though positive clinical data for MDC1A may accelerate clinical
development for Duchenne. Further studies in a more severely
affected animal model of Duchenne may be required to justify
further development of LAM-111 for treatment of Duchenne.
•What steps need to be completed before moving into a
clinical trial?
A scalable process must be constructed that produces sterile
recombinant human laminin-111 (rhLAM-111). Prior to any testing of
rhLAM-111 in clinical (human) studies, we must ensure it is safe and
effective in mouse and large animal models of muscular dystrophy.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
Uncertain. Current efforts are focused on MDC1A.
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NBD Peptide
Using NF-kB blockers to Decrease Inflammation and Increase Regeneration in Duchenne
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to clinical
trials involving people yet.
•Where is this research being done and who is funding
this research?
This research is being done at Dr. Denis Guttridge’s laboratory
at The Ohio State University in conjunction with Theralogics and
various academic partners. The work is funded by the NINDS
branch of the NIH.
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria would be
for a future clinical trial.
•Where can I learn more about this research?
»» You can learn more about Dr. Guttridge’s research at The Ohio
State University website: http://biomed.osu.edu
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the goal or purpose of this research?
The NF-kB pathway has been shown to be involved in promoting
inflammation and compromising muscle function in response to the
loss of dystrophin in Duchenne. Dr. Guttridge’s group has used a
small molecule called “NBD” to specifically block this pathway. In
mice that lack dystrophin, NBD significantly improves the function
of breathing muscles and allowed the mice to maintain whole
body function. Also, in mice that lack dystrophin and utrophin,
the drug significantly improved cardiac function. Skeletal muscle
improvements were also observed when NBD was administered
to dogs lacking dystrophin.
•What is the current state of this research and what
steps need to be completed before moving into a
clinical trial?
»» Discussions have taken place with the FDA in order to submit a
pre-Investigational New Drug Application.
»» Studies in a large animal model have been completed and a
publication reporting the results is pending.
»» NBD is being produced on a large scale at a commercial vendor.
Non-GLP pharmacology and toxicology testing have been
completed. Formal GLP toxicology studies have been planned.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
At this time, it is too early to estimate when a clinical trial in
Duchenne would start. However, preparations are in place to
complete the final studies leading to an IND submission.
•Where would a clinical trial take place?
The Phase 1 safety clinical is planned for Nationwide Hospital,
Columbus, Ohio, directed by Dr. Jerry Mendell. For Phase 2, it
is too early to know where a clinical will take place and much will
depend on the safety profile determined in Phase 1.
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PRO052/PRO055
Exon 52 and 55 Skipping for Duchenne Muscular Dystrophy
•What stage is this research?
This research is pre-clinical, meaning it has not yet started clinical
trials in patients.
•What is the goal or purpose of this research?
The purpose of this research is to design exon skipping for
Duchenne for exons 52 and 55, and to ensure these treatments
are both safe and effective. PRO052 and PRO055 may potentially
be used in the future as a treatment for Duchenne patients with
a mutation that is amenable to skipping exon 52 or exon 55,
respectively, in the dystrophin gene. This is applicable to around
4.1% and 2.0% of all Duchenne patients, respectively.
•Where can I learn more about this research?
»» www.Prosensa.com
»» The trials will be posted on www.ClinicalTrials.gov once
recruitment begins
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•Where is this research being done and who is funding
this research?
This research is being done at Prosensa Therapeutics.
•What steps need to be completed before moving into a
clinical trial?
The pre-clinical studies are almost completed. These need to
conclude with no major safety findings before the preparations
can begin for the first clinical trial in study participants. The
development of PRO052 and PRO055 is also dependent on the
ongoing clinical studies with other similar compounds.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
It is difficult to estimate when clinical trials will begin recruitment.
Once we have more clarity on the path forward for drisapersen
(Prosensa’s lead product for Duchenne), we expect to be able to
provide an estimate of when trials with PRO052 and PRO055 could
start.
•What will the inclusion (enrollment) criteria be for the
upcoming trials?
Participants will need to be boys with Duchenne who have a
mutation correctable by skipping exon 52 or 55. Additional details
regarding the inclusion and exclusion criteria will be released closer
to the trials and will be posted on www.clinicaltrials.gov.
•Where would a clinical trial take place?
It is too early to know where the trial sites will be located. Many
complex factors go into determining locations for a clinical trial.
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RTC13 Read-Through Compound
Development of a drug that corrects nonsense mutations in patients with Duchenne
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to clinical
trials involving people yet.
•Where is this research being done and who is funding
this research?
This research is being done at the University of California Los
Angeles (UCLA) and is or has been funded in the past by the
Muscular Dystrophy Association (MDA), the National Institute of
Health (NIH), and the Department of Defense (DoD).
•What is the goal or purpose of this research?
We have identified a molecule called RTC13 that can restore a
full-length dystrophin protein in skeletal muscles of Duchenne
patients affected by nonsense mutations. They are generally
caused by single point mutations in the dystrophin gene that
lead to the inappropriate presence of specific sequences (UAA,
UAG, or UGA) called stop codons. These stop codons cause a
premature arrest in the synthesis of the dystrophin protein. As a
result, no dystrophin is produced in skeletal muscles and heart.
We have recently shown that this drug can restore dystrophin
expression in muscles of mdx, a widely used animal model for
Duchenne. Our goal is to optimize the dose necessary to achieve
therapeutic effects in Duchenne patients and to conduct the
safety and toxicology studies required to file an Investigational
New Drug (IND) application to the Food and Drug Administration
(FDA). It has been estimated that approximately 13% of Duchenne
patients could benefit from read-through of nonsense mutations.
Importantly, because the drug restores full-length dystrophin, the
protein being produced is expected to be fully functional and
should be able to halt or at least counteract disease progression.
to conduct toxicology and safety studies will require extensive
economical resources. As such, effort will be placed on identifying
potential funding sources through US government grants and other
advocacy groups.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
2-3 years.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research
would be located.
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria would be
for a future clinical trial.
•Where can I learn more about this research?
»» You can learn more about this research at
http://bertonilab.neurology.ucla.edu/index.html.
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the current state of this research?
Our data demonstrate that RTC13 can efficiently restore
dystrophin into muscle of Duchenne models with substantial
beneficial effects achieved on muscle function. We are currently
optimizing an orally viable formulation of the drug that can be
administered to patients as this represents the best option to treat
the disorder. We anticipate completing these studies by the end of
2014.
•What steps need to be completed before moving into a
clinical trial?
We have completed proof-of-concept studies in the mdx mouse
model for Duchenne. We are now focusing on conducting the
toxicology studies needed to demonstrate that the compound
is safe to use in children and young adults. The steps necessary
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Rycal® ARM210
Using Rycal® ARM210 to Improve Muscle Strength and Function in Duchenne
•What stage is this research?
This research in Duchenne is late-stage pre-clinical, meaning it
has not advanced to clinical trials involving people with Duchenne
yet. Plans to advance to clinical trials are underway. In addition,
a related compound in development by ARMGO has completed
several clinical trials for heart failure and cardiac arrhythmias.
Positive activity in patients was demonstrated, validating ARMGO’s
novel therapeutic approach.
•Where is this research being done and who is funding
this research?
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria will be for
the clinical trial.
•Where can I learn more about this research?
»» You can learn more about Rycan ARM210 at ARMGO’s website
(http://armgo.com/).
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
This research is being done by ARMGO Pharma, Inc. The Muscular
Dystrophy Association recently awarded the company $1 million to
develop the compound, Rycal ARM210, for Duchenne.
•What is the goal or purpose of this research?
ARMGO has identified a new class of small molecule therapeutics
(Rycals®) that restore the normal balance of calcium within muscle
cells by correcting the activity of a type of channel called the
“ryanodine receptor calcium channel complex” (RyR). In mice that
lack dystrophin, Rycal® ARM210 corrected a calcium leak occurring
through the RyR and improved daily activity and muscle force.
The degree of benefit depended on the dose of the compound
administered. These studies help establish the rationale for
conducting a clinical trial with this compound in Duchenne.
•What is the current state of this research and what
steps need to be completed before moving into a
clinical trial?
Formal toxicology studies required by the FDA have now been
completed. ARM210 was generally found to be safe and well
tolerated. ARMGO plans to file an Investigational New Drug (IND)
Application at the end of this year in preparation for beginning a
human clinical trial in Duchenne.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
If an IND is filed by the company at the end of 2014 and is accepted
by the FDA, a clinical trial could begin as early as the first quarter
of 2015. Initial clinical studies in healthy volunteers to establish
safety would then be followed by studies in Duchenne patients.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research would
be located. Many complex factors go into determining the right
location(s) for a clinical trial.
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Spironolactone
Using Aldosterone Antagonists to Improve Muscle Strength and Function in Duchenne
•What stage is this research?
This research in Duchenne is pre-clinical, meaning it has not
advanced to clinical trials involving people with Duchenne yet.
However, spironolactone is an FDA-approved drug for high blood
pressure and end-stage heart failure.
•Where is this research being done and who is funding
this research?
This research is being done at Dr. Jill Rafael-Fortney’s laboratory at
The Ohio State University. Parent Project Muscular Dystrophy and
CureDuchenne funded initial studies, and now larger federal grants
are helping the team to conduct larger studies that will provide
enough critical information to design clinical trials.
•What is the goal or purpose of this research?
Dr. Rafael-Fortney’s laboratory recently observed a profound
improvement in a mouse model of Duchenne resulting
from treatment with the FDA-approved drugs lisinopril and
spironolactone. Muscle strength in skeletal muscles in limbs and
those used in respiration was doubled in treated mice compared
to untreated mice and function of the heart was also significantly
improved. Ongoing muscle damage in skeletal muscles and heart
was almost completely prevented. These studies have direct
implications for designing clinical trials for the Duchenne patient
population.
•What is the current state of this research and what
steps need to be completed before moving into a
clinical trial?
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
Funding for the preclinical studies to compare spironolactone
(a non-specific mineralocorticoid antagonist) with eplerenone
(a specific mineralocorticoid antagonist) and a clinical trial with
primary cardiac outcome measures based on the results of the
preclinical study has been obtained. The preclinical study began
in July 2013 and all of the results are expected to be analyzed by
Fall of 2014, for a clinical trial to start by early 2015.
•Where would a clinical trial take place?
Dr. Subha Raman at The Ohio State University Wexner Medical
Center will be the lead investigator for the trial and UCLA will also
be a site for the trial. (See Eplerenone FAQ sheet).
•Who would be eligible to participate in a clinical trial?
Inclusion criteria will be evaluated by cardiac MRI.
•Where can I learn more about this research?
»» You can learn more about Dr. Rafael-Fortney’s research at The
Ohio State University website
(http://medicine.osu.edu/mcbiochem/directory/facultydirectory/jill-a-rafael-fortney/Pages/index.aspx).
»» www.ClinicalTrials.gov will post all clinical trials once they are
actively recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
»» A preclinical study with cardiologist collaborator Dr. Subha
Raman and physiologist collaborator Dr. Paul Janssen began
in July 2013, to compare the cardiac and skeletal muscle
improvements in dystrophic mice with spironolactone versus
eplerenone. This will be followed by a clinical trial with primary
cardiac outcome measures, using whichever drug is more
effective in preclinical studies.
»» Additional funding is also allowing the researchers to determine
the efficacy of each of these drugs on limb and respiratory
skeletal muscles and to define the mechanisms of action. Future
clinical trials will be planned based on the results of these
preclinical outcomes expected by Fall of 2014.
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Tamoxifen
Using tamoxifen to improve muscle strength in Duchenne and Becker
•What stage is this research?
This research in Duchenne is pre-clinical, meaning it has not yet
advanced to clinical trials involving people yet. Tamoxifen is the
generic name for an approved drug (Nolvadex) that is used to treat
estrogen-dependent breast cancer.
•Where is this research being done and who is funding
this research?
This research is being done in Dr. Urs Ruegg’s laboratory by Dr.
Olivier Dorchies at the University of Geneva using mdx mice,
i.e. mice lacking dystrophin. Parent Project Muscular Dystrophy is
helping to fund this research.
•What is the goal or purpose of this research?
»» Drs. Ruegg and Dorchies have shown that tamoxifen can trigger
substantial improvements in muscle strength in mdx mice. In
fact, low doses (threshold 0.3 mg/kg body weight per day) are
effective to improve muscle function. This suggests that the
drug acts on a high-affinity target, probably one of the nuclear
estrogen receptors, ERa and ERß. Studies are ongoing to
investigate the exact mechanism of action using mice deleted of
either ERa or ERß and antagonists of these receptors.
»» Ultimately, tamoxifen may be part of a “cocktail” along with
other treatments that slow or stop the loss of strength in
Duchenne or Becker. It is possible that tamoxifen could take the
place of prednisone as an alternative with fewer side effects or
that lower prednisone doses could be used in combination with
tamoxifen.
•What is the current state of this research?
»» Drs. Ruegg and Dorchies have tested various doses of tamoxifen
in both adult and old mice. Benefits of treatment included lower
creatine kinase levels, 40% less cardiac fibrosis (scarring) than
in untreated mice, and near normal improvements in muscle
strength. Although mice are not humans and it is never entirely
certain how results will translate, a robust treatment response in
mice that lack dystrophin is the gold standard for moving drugs
into clinical trials for Duchenne.
»» The laboratory of Dr. Dominic Wells at the University of London
has recently shown that there is good reproducibility and that
the combination of tamoxifen plus prednisolone gives a slightly
stronger effect than tamoxifen alone.
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•What steps need to be completed before moving into a
clinical trial?
»» While current data are encouraging, we don’t yet know if
tamoxifen will have the same positive effects in Duchenne and
Becker. We need to understand more about how tamoxifen
may work in Duchenne. In particular, we need to determine
if tamoxifen prevents muscle necrosis and enhances muscle
regeneration and how it might interact with cardiac medications,
which are also used in Duchenne.
»» Noteworthy, the pharmacological profile of tamoxifen is well
known; it has also been given as an anti-tumor agent to children
and no undesired effects have been noted.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
There are several different points of view: Some think that it should
be tested in dystrophic dogs before a clinical trial, whereas others
don’t see the benefit of a canine study, given it is an approved
drug. Without a study in dogs, a clinical trial with Duchenne
patients may start around the end of 2015, with such a study, 2-3
years later.
•Where would a clinical trial take place?
It is too early to know where a clinical trial for this research would
be located. Many complex factors go into determining the right
location(s) for a clinical trial.
•Who would be eligible to participate in a clinical trial?
Again, it is too early to know what the inclusion criteria will be for
the clinical trial. The improvements seen in the mice are very likely
not dependent on any particular type of mutation in the dystrophin
gene, so tamoxifen is potentially applicable to all boys and young
men with Duchenne and Becker and is relatively inexpensive, about
USD 1000/year.
•Where can I learn more about this research?
»» www.ClinicalTrials.gov will post this clinical trial once it is actively
recruiting patients.
»» Please check www.DuchenneConnect.org for updates to this
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VBP15
A Novel Delta-9,11 Glucocorticoid Analogue
•What stage is this research?
This research is pre-clinical, meaning it has not advanced to
clinical trials involving people yet. We anticipate starting a clinical
program later this year.
•Where is this research being done and who is funding
this research?
»» This research is being performed at ReveraGen Biopharma Inc.
and Children’s National Medical Center.
»» ReveraGen is working through various public-private partnerships
to develop VBP15:
»» VBP15 is in its third round of milestone driven funding from
the MDA Venture Philanthropy (MVP) program.
»» Additional funding is provided by the Save Our Sons, NIH
TRND, CDMRP Department of Defense, Parent Project
Muscular Dystrophy, Foundation to Eradicate Duchenne, and
CureDuchenne.
•What is the goal or purpose of this research?
The goal of this research is to develop a drug (VBP15) that
will work as well or better than traditional glucocorticoids
(prednisone, deflazacort) but with an improved safety profile
compared to these ‘standard of care’ drugs. This will hopefully
result in better efficacy (clinical outcomes), and better patient
compliance due to improved side effect profile.
•What is your best estimate for the length of time it will
take to move this research into clinical trials?
We anticipate Phase 1 studies to be initiated in Fall 2014.
•Where would a clinical trial take place?
It is too early to know exactly where a clinical trial would be located,
however our Phase 1 trial will be conducted in the US.
•Who would be eligible to participate in a clinical trial?
We anticipate Phase 1 studies to be performed in normal healthy
adult volunteers. Phase 2 studies would likely be open to many
Duchenne patients, although it is too early to know what the
inclusion criteria would be for a future clinical trial.
•Where can I learn more about this research?
»» www.reveragen.com
»» www.ClinicalTrials.gov will post this trial once it is actively
recruiting.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•What is the current state of this research?
»» VBP15 has completed the necessary studies to file for IND
with the FDA. VBP15 shares many ADME features (ADME –
absorption, distribution, metabolism, excretion) with prednisone
& other routinely utilized steroids
»» Studies in the mdx mouse have shown improvements in function
equal to prednisone, yet with reduced side effects.
»» Testing in mouse models of other inflammatory indications has
shown biological activity equal to or better than prednisone.
•What steps need to be completed before moving into a
clinical trial?
Studies required for IND have been successfully completed and we
are currently in the process of writing the IND with a submission
expected in 3Q 2014.
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Early Treatment of Cardiomyopathy
Early Treatment of Cardiomyopathy with Eplerenone in Duchenne Muscular Dystrophy
•What stage is this research?
This double-blind, randomized trial has completed enrollment.
•What is the goal or purpose of this study?
The goal of this study is to determine if a class of medicines called
aldosterone antagonists, medicines used for high blood pressure
and heart failure, can limit heart muscle damage and preserve
heart muscle function in boys with Duchenne. The research team
previously showed that in a Duchenne mouse model, aldosterone
antagonism in combination with angiotensin converting enzyme
(ACE) inhibition limited muscle damage and maintained muscle
function. Because of these drugs’ established safety in both
children and adults, this study could be initiated soon after
completion of the mouse study.
•Where can I learn more about this study?
»» You can learn more about this study at
www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this FAQ
sheet.
•Who is sponsoring this study?
This study is sponsored by BallouSkies with additional support
provided by Parent Project Muscular Dystrophy.
•Who was eligible to participate in this study?
Current enrollment is completed.
•What are the participants doing in this study?
Participants take either eplerenone or placebo in combination
with an ACE inhibitor or angiotensin receptor blocker daily for 12
months. Heart muscle damage and function is being measured
using noninvasive cardiac magnetic resonance imaging (MRI), and
blood samples are collected periodically.
•When will this study be completed?
The estimated study completion date is July 2014.
•Are there any preliminary results available?
No preliminary results are available for this trial. We anticipate
being able to present peer-reviewed results by early 2015.
•Will there be additional clinical trials in the future,
and if so, when?
We plan to combine information from ongoing preclinical
experiments with the results of this study to design a larger clinical
trial that will begin around mid-2015. Stay tuned for eligibility
criteria and more information by early 2015.
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ImagingDMD
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
•What stage is this research?
This is an active trial, but enrollment has been completed.
•What is the goal or purpose of this study?
This study focuses on developing Magnetic Resonance Imaging
(MRI) as a tool to monitor disease progression in Duchenne and to
serve as an outcome measure for clinical trials. The aim of the study
is to determine whether noninvasive MRI outcome measures can
replace muscle biopsies in evaluating the effectiveness of new
treatments in future clinical trials.
•Where can I learn more about this study?
»» You can learn more about this study at
www.ImagingDMD.org and www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
•Who is funding this study?
This study is funded by the NIH – NIAMS/NINDS.
•Who is eligible to participate in this study?
Enrollment is complete, but participants in this study are males with
Duchenne, ages 5 to 14 years upon entering the study, able to
walk independently for at least 100 meters (~length of a football
field) without assistive device and climb 4 stairs. Subjects were
not excluded based on corticosteroid treatment. Minorities with
Duchenne who fit these inclusion criteria are needed in this study.
•What are participants doing in this study?
MRI and Magnetic Resonance Spectroscopy (MRS) measurements
will be performed on the participants’ leg muscles, and muscle
strength and functional tests such as walking and climbing four
steps will also be performed. Additionally, a small sample of skin
cells will be taken from the participants and stored in established
tissue banks.
•Where does this study take place?
This study is recruiting at 3 different cities in the US: University of
Florida, Gainesville, FL; Children’s Hospital of Philadelphia (CHOP),
Philadelphia, PA; and the Oregon Health and Science University
(OHSU) and Shiners Hospital for Children-Portland, Portland, OR.
•When will the study be completed?
The estimated study completion date is April 2015.
•Are there any preliminary results available?
This trial is ongoing and no preliminary results are available.
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PRO044
Phase 1/2 Study of PRO044 in Duchenne Muscular Dystrophy
•What stage is this research?
This phase 1/2a clinical trial has ended. The extension study for
participants of this study is planned to start in the second half of
2014.
•What was the goal or purpose of this study?
•Where can I learn more about this study?
»» www.Prosensa.com
»» www.ClinicalTrials.gov will post all trials once they are actively
recruiting
»» Please check www.DuchenneConnect.org for updates to this FAQ
sheet.
The aim of the study was to identify a suitable dose(s) for further
investigation, based on how well PRO044 is tolerated and to
provide preliminary evidence of a potentially therapeutic dose,
based on dystrophin expression. PRO044 may potentially be used
in the future as a treatment for Duchenne patients with a mutation
that is amenable to skipping exon 44 in the dystrophin gene. This
is applicable to around 6% of all Duchenne patients.
• Who was the sponsor of this study and where was the
study taking place?
Prosensa Therapeutics (www.prosensa.com) was the sponsor of this
study. This study took place at four sites in Europe (Belgium, Italy,
the Netherlands and Sweden).
•Who was eligible to participate in this study?
Boys with Duchenne, aged 5-16 years, with a mutation correctable
by skipping exon 44. The complete list of inclusion and exclusion
criteria can be found at www.clinicaltrials.gov.
•Are there any results available?
Yes, results of the PRO044 phase 1/2 study were shared at the WMS
conference which took place in October 2013. Topline results of
this study are that dystrophin restoration was confirmed; dose
exposure modelling predicts effective dose range at 6–9 mg/kg
intravenously; safety findings of the study are consistent with the
known class safety profile; and no drug related serious adverse
events were reported.
•Will there be additional clinical trials in the future,
and if so, when?
Further studies with PRO044 await the outcome of the analyses
of the drisapersen results (Prosensa’s lead product for Duchenne),
since this outcome could influence the study design of future
studies with exon skipping products. As soon as we have more
clarity, we will provide additional information.
•Will any future clinical trials involving PRO044 have a
study site in the US?
It is Prosensa’s intention to include the US in future clinical trials
with PRO044.
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PRO045
Phase 2b Study of PRO045 in Duchenne Muscular Dystrophy
•What stage is this research?
The phase 2b dose escalation study is ongoing, but not recruiting
participants. The PRO045 study consists of two phases: a dose
escalation phase and a confirmatory treatment phase. The
confirmatory treatment phase is expected to start in the first half
of 2015.
• What is the goal or purpose of this study?
The aim of the study was to identify a suitable dose(s) for further
investigation, based on how well PRO045 is tolerated and to
provide preliminary evidence of a potentially therapeutic dose,
based on dystrophin expression. PRO045 may potentially be used
in the future as a treatment for Duchenne patients with a mutation
that is amenable to skipping exon 45 in the dystrophin gene. This
is applicable to around 8% of all Duchenne patients.
•Will there be additional clinical trials recruiting in the
future, and if so, when?
The phase 2b dose escalation phase will be followed by a
confirmatory treatment phase. This study is expected to start in the
first half of 2015, enrolling the participants of the dose escalation
phase as well as new participants. It is anticipated that for this study
phase the number of trial sites and participating countries will
increase including sites in the US.
•Where can I learn more about this study?
»» www.Prosensa.com
»» www.ClinicalTrials.gov will post all trials once they are actively
recruiting
»» Please check www.DuchenneConnect.org for updates to this FAQ
sheet.
•Who is the sponsor of this study?
Prosensa Therapeutics is the sponsor of this study.
•Who was eligible to participate in this phase 2b study?
Boys with Duchenne, age 5-18 years, with a deletion correctable
by skipping exon 45. Participants must be ambulant and must have
been receiving a stable dose of glucocorticosteroids for at least 6
months prior to the first PRO045 administration. The complete list
of inclusion and exclusion criteria can be found at www.clinicaltrials.
gov.
•What are participants doing in the phase 2b dose
escalation study?
Participants receive weekly doses of PRO045 in a number of
increasing dose levels, subcutaneously or intravenously. The
primary outcome measure is the 6-minute walk test. Additional
muscle strength and function tests will be performed.
•Where does this study take place?
There are currently 6 sites in Europe: one in Belgium, France, Italy,
the Netherlands, and two in the UK (London and Newcastle).
•When can we expect the results of the phase 2b study?
We expect data for this study in the fourth quarter of 2014.
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PRO053
Phase 1/2 study of PRO053 in Duchenne Muscular Dystrophy
•What stage is this research?
The phase 1/2 dose escalation study is ongoing, but not recruiting
participants. The PRO053 study consists of two phases: a dose
escalation phase and a confirmatory treatment phase. The
confirmatory treatment phase is expected to start in the first half
of 2015.
• What is the goal or purpose of this study?
The aim of the study was to identify a suitable dose(s) for further
investigation, based on how well PRO053 is tolerated and to
provide preliminary evidence of a potentially therapeutic dose,
based on dystrophin expression. PRO053 may potentially be used
in the future as a treatment for Duchenne patients with a mutation
that is amenable to skipping exon 53 in the dystrophin gene. This
is applicable to around 8% of all Duchenne patients.
•Will there be additional clinical trials recruiting in the
future, and if so, when?
The phase 1/2 dose escalation phase will be followed by a
confirmatory treatment phase. This study is expected to start in the
first half of 2015, enrolling the participants of the dose escalation
phase as well as new participants. It is anticipated that for this study
phase the number of trial sites and participating countries will
increase including sites in the US.
•Where can I learn more about this study?
»» www.Prosensa.com
»» www.ClinicalTrials.gov will post all trials once they are actively
recruiting
»» Please check www.DuchenneConnect.org for updates to this FAQ
sheet.
•Who is the sponsor of this study?
Prosensa Therapeutics is the sponsor of this study.
•Who was eligible to participate in this phase 1/2
study?
Boys with Duchenne, age 5-18 years, with a deletion correctable
by skipping exon 53. Participants must be ambulant and must have
been receiving a stable dose of glucocorticosteroids for at least
6 months prior to the first PRO053 administration. The complete
list of inclusion and exclusion criteria can be found at www.
clinicaltrials.gov.
•What are participants doing in the phase 1/2 dose
escalation study?
Participants receive weekly injections of PRO053 in a number
of increasing dose levels, subcutaneously or intravenously. The
primary outcome measure is the 6-minute walk test. Additional
muscle strength and function tests will be performed.
•Where does this study take place?
There are currently 6 sites in Europe: one in Belgium, France, Italy,
the Netherlands, and two in the UK (London and Newcastle).
•When can we expect the results of the phase 1/2
study?
We expect data for this study in the first quarter of 2015.
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CATENA®
Phase 3 Study of Idebenone in Duchenne Muscular Dystrophy (DELOS)
•What stage is this research?
This trial was completed with 64 randomized and treated patients
who were not using concomitant glucocorticoids.
•What was the goal or purpose of this study?
The primary objective of this study was to assess the efficacy
of idebenone (Catena®/ Raxone®) in improving or delaying
the loss of respiratory function. Secondary objectives included
assessing the efficacy of idebenone in improving or delaying the
loss of respiratory function using measures other than those used
for the primary endpoint and improving or delaying the loss of
muscle strength, motor function, and quality of life in patients with
Duchenne. The assessment of safety and tolerability of idebenone
was also a secondary objective.
•Who was funding this study?
This study was funded by Santhera Pharmaceuticals.
•Who was eligible to participate in this study?
This study was open to males with a diagnosis of Duchenne,
between the ages of 10-18 years old. Both ambulatory and nonambulatory patients were eligible. There were no eligibility criteria
based on mutation status.
•What were participants doing in this study?
Participants were randomized to receive either idebenone 900
mg/day (300 mg 3 times a day with meals) or matching placebo
for 52 weeks. Patients underwent hospital and home-based
respiratory assessments. The primary outcome variable was
peak expiratory flow percent predicted (PEF%p) and the primary
endpoint was the Change from Baseline to Week 52 in PEF%p as
measured by hospital-based spirometry. PEF%p measured using
the ASMA-1 device at home was a secondary endpoint. Other
respiratory endpoints included Forced Vital Capacity (as FVC%p,
a measure of restrictive lung disease predictive of morbidity and
mortality in DMD) and Forced Expiratory Volume in 1 Second (as
FEV1%p, an additional endpoint for respiratory muscle strength).
Muscle and motor strength endpoints included change in muscle
strength between Baseline and Week 52 (as measured by hand-held
myometry, HHM) and in the Brooke and Vignos scales. Changes in
Quality of Life assessment scores and safety and tolerability were
also assessed.
•When was this study completed?
•Are there any preliminary results available?
»» For the primary endpoint, Catena®/Raxone® significantly
reduced the annual decline in PEF%p by 66% compared
to patients taking placebo. The average annual decline in
PEF%p was 9.0% for placebo (Baseline: 54.3%; Week 52: 45.3%
(n=27), p<0.001) versus 3.1% for Catena®/Raxone® (Baseline
PEF%P: 53.1%; Week 52: 50.1% (n=30); p=0.13) for a treatment
group difference in change from Baseline to Week 52 of 5.96%
(p=0.04). When measured weekly by the patient at home using
the hand-held ASMA-1 device (secondary endpoint), Catena®/
Raxone® significantly reduced the annual decline in PEF%p by
80% compared to patients taking placebo. The ASMA-1 device
showed a significant 9.0% decline in PEF%p occurred between
Baseline and Week 52 in the placebo group (n=31; p<0.001),
compared to a non-significant decline of 1.8% in the Catena®/
Raxone® group (n=31; p=0.44), for a treatment group difference
in change from Baseline to Week 52 of 7.2% (p=0.03). In FEV1%p,
Catena®/Raxone® significantly reduced the annual decline by
78% compared to patients taking placebo. The annual decline
in FEV1%p in the placebo group was 10.7% compared to 2.4%
in the Catena®/Raxone® group (p=0.03). For FVC%p, also
supported a treatment benefit of Catena®/Raxone®. The annual
decline in FVC%p was reduced by 37% in Catena®/Raxone®treated patients (9.0% decline in FVC%p in the placebo group
versus a 5.7% decline in the Catena/Raxone group; p=0.08).
»» No differences were observed between treatment groups in
Maximal Inspiratory or Expiratory Pressures or in Peak Cough
Flow.
»» Catena®/Raxone® was safe and well tolerated.
»» Data analysis is still ongoing and other results will be disclosed
shortly.
»» On the basis of this result, Santhera will approach the FDA
and EU Regulatory Authorities for discussions on the most
expeditious regulatory pathway to approval.
•Will there be additional clinical trials in the future,
and if so, when?
It is too early to know if additional trials will be required.
•Where can I learn more about this study?
»» You can learn more about this study at www.santhera.com and
www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
The last patient visit occurred in January 2014 and the study ended
in April 2014.
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IGF-I (Increlex)
Safety and Efficacy Study of IGF-I in Duchenne Muscular Dystrophy
•What stage is this research?
This trial has been completed and is no longer recruiting patients.
•What was the goal or purpose of this study?
The purpose of this study is to determine whether IGF-I (insulinlike growth factor-I) therapy, also known as Increlex, improves or
preserves muscle function in Duchenne. The investigators also
want to learn if IGF-I can reduce glucocorticoid side effects such as
growth failure and insulin resistance.
•Who was funding this study?
This study was funded by Charley’s Fund, Nash Avery Foundation,
Action Duchenne, and Tercica (Subsidiary of Ipsen).
•Who was eligible to participate in this study?
Participants were males with a diagnosis of Duchenne, age 5 years
or older, ambulatory, and who had been on daily glucocorticoid
(prednisone or deflazacort) therapy for > 12 months.
•What were participants doing in this study?
This study involved two groups. Participants in the first group
received IGF-I (Increlex) once daily by subcutaneous injection every
morning with breakfast for a duration of 6 months, and they also
continued to take their glucocorticoid. Participants in the second
group only took their glucocorticoid. The study took place at
Cincinnati Children’s Hospital Medical Center.
•When will this study be completed?
The clinical aspects of the study were completed at the end of
2012. The study is currently being written up for publication.
•Are there any preliminary results available?
The study showed that IGF-I improved height growth and
measures of insulin resistance. There was no change (neither
improvement nor deterioration) seen in motor function at 6 months
of treatment.
•Will there be additional clinical trials in the future,
and if so, when?
No additional IGF-I trials are currently being planned.
•Where can I learn more about this study?
»» You can learn more about this study at www.tercica.com and
www.ClinicalTrials.gov.
»» Please check www.DuchenneConnect.org for updates to this
FAQ sheet.
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