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Great Strides Against Rare Diseases
What are Rare Diseases?
Although rare diseases each may individually only impact
a relatively small number of patients, generally defined as
less than 200,000 in the United States, their impact on
public health is far-reaching.1 Rare diseases affect 30 million
Americans – about 1 in 10 – but many may go undiagnosed
or misdiagnosed.2
Approximately 7,000 different rare diseases are known
today,3 with likely many more still to be identified, and 80%
of rare diseases are genetic in origin.4 Although they affect
many people in aggregate, much remains unknown about the
underlying causes and the clinical course of many individual
rare diseases. Even within a particular rare disease there can
be many variations or subtypes resulting in different clinical
manifestations and disease progression. Additionally, 85%
to 90% of rare diseases are serious or life threatening.5
Advancing New Treatment Options
for Patients
Developing medicines to treat rare diseases is particularly
challenging. The underlying biological mechanisms of the
disease are often extremely complex, making it difficult to
design and implement research and development strategies.
Additionally, due to the inherently small population of
patients with a rare disease, recruiting for and conducting
clinical studies can be very difficult.
Despite these challenges, America’s biopharmaceutical
researchers have leveraged new technologies and the
growing scientific understanding of many rare diseases to
develop groundbreaking therapies over the past ten years.
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Key regulatory provisions, like the Orphan Drug Act (ODA),
have been integral in spurring innovation by providing
market exclusivity, tax incentives, and user fee waivers that
help facilitate the development of treatments for diseases
affecting a small patient population, where the costs of
developing the drug may not be recouped by sales of the
approved medicine.6,7 The ODA has been regarded as a
tremendous success; since the passage of the ODA in 1983,
the FDA has approved more than 500 orphan drugs. In
contrast, the FDA approved fewer than 10 medicines for rare
diseases in all of the 1970s before the ODA was passed.8
Harnessing Innovation in Rare Disease
Treatment: 2015 Advances
In 2015, several key treatment advances became available
for patients with rare diseases. In fact, nearly half (47%) of
novel new drugs approved in 2015 at FDA’s Center for Drug
Evaluation and Research (CDER) were for rare diseases.9 This
is a noteworthy uptick, given that over the last five years an
average of just over 35% of FDA new drugs approvals each
year were for rare diseases.10
CDER noted that for the second consecutive year, FDA
approved more drugs to treat rare diseases than any previous
year in history.11 The new medicines help patients with a
variety of metabolic and genetic disorders, including difficult
to treat forms of high cholesterol, and cystic fibrosis, as
well as several cancers, including non-small cell lung cancer,
thyroid cancer, multiple myeloma, and melanoma.12 Many
of the new medicines offer treatment options where there
were few or none previously available. Additionally, among
the novel new medicines approved in 2015 for rare diseases,
38% (8 of 21) were first-in-class treatments, representing
entirely new ways for treating disease.
2015: BANNER YEAR FOR RARE DISEASES
47% of new
drug approvals were
for rare diseases
5 new medicines for
pediatric patients
Source: U.S. FDA. “Novel Drugs Summary 2015.”
8 first-in-class treatments,
representing entirely new
ways for treating disease
11 new cancer
therapies
New treatments for cystic fibrosis,
difficult-to-treat high cholesterol, and
several enzyme deficiency disorders
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Multiple Myeloma
Two of the first-in-class medicines approved in 2015 were
for treating multiple myeloma, a rare form of bone marrow
cancer that occurs in infection-fighting white blood cells.14,15
Through different mechanisms, both new forms of treatment
help activate the body’s own immune system to attack the
cancerous cells and have showed significant clinical impact
by reducing the size of tumors. In addition to the two firstin-class medicines approved in 2015, two additional multiple
myeloma treatments also became available in 2015, providing
important new treatment options for patients.16
Cystic Fibrosis
In recent years, great advances have been made in the
treatment of cystic fibrosis in highly targeted patient
populations based on the genetic mutation that causes their
disease, enabling patients to target the underlying cause
of their disease rather than just the symptoms. In 2015, a
first-in-class treatment became available for patients with the
mutation (F508del) that is known to be the most common
cause of cystic fibrosis.17 In patients with cystic fibrosis, there
is a buildup of thick mucus in the lungs, digestive tract, and
other parts of the body, leading to severe digestive and
respiratory problems. This new medicine represents a major
advance for patients and, as noted by the FDA, “significantly
broadens the availability of targeted treatments for the
specific defects that cause cystic fibrosis.”
Pediatric Treatment Advances
The FDA approved several new medicines for pediatric
patients in 2015, including many for patients who previously
lacked treatments. This year’s approvals are providing
important treatment options for a variety of rare diseases
that affect this particularly vulnerable population.
The first therapy ever for the treatment of a rare, progressive,
metabolic disease called hypophosphatasia (HPP) was
approved by the FDA in 2015.18 This genetic condition
affects 1 in 100,000 newborns in its most severe form and
is characterized by defective bone mineralization that can
lead to softening of the bones and skeletal abnormalities.
HPP patients who took this new medicine had improved
survival and also demonstrated improvements in bone
growth and health.
Another notable pediatric advance was the approval of a
new treatment for children with high risk neuroblastoma, a
rare form of cancer that occurs in nerve cells and the brain.19
CDER’s Office of Hematology and Oncology Products noted
that the medicine “fulfills a critical need by providing
a treatment option that prolongs survival in children with
high-risk neuroblastoma.”
In 2015 the first therapy for the treatment of a rare inherited
genetic disease called lysosomal acid lipase (LAL) deficiency
was approved.20 Patients with LAL deficiency have little or
no activity of the enzyme that prevents the buildup of fats in
within cells, leading to liver and cardiovascular disease. The
disease often presents itself during infancy and progresses
really rapidly. The new medicine helps replace and replenish
the deficient enzyme. Dr. Janet Woodcock, Director of CDER
remarked of the significance of the approval, remarking, “These
patients for the first time ever have access to a treatment that
may improve their lives and chances of survival.”
FDA granted approval for the first treatment ever for an
ultra-rare, inherited metabolic disease called hereditary
orotic aciduria (HOA).21 Patients with HOA are unable to
produce ribonucleic acid as a result of an enzyme deficiency,
resulting in developmental delays, blood cell abnormalities,
and urinary tract obstructions. This new medicine
demonstrated the ability to help patients maintain stability
in a variety of hematologic blood parameters, an important
measure of disease progression.
These patients for the first time ever have access to a treatment
that may improve their lives and chances of survival.
Dr. Janet Woodcock
Director of the Food and Drug Administration’s Center for Drug Evaluation and Research
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2015 was an important year for patients with rare bile acid
synthesis disorders. The FDA approved the first treatment
for patients with a handful of related genetic, metabolic
disorders that result in the inability to produce an important
enzyme that is essential for bile production in the liver from
cholesterol.22 Without the enzyme, patients experience liver
damage and malabsorption of fats and vitamins in the liver.
With the new medicine, patients experienced improved liver
function and longer survival.
advancing new medicines for patients with rare diseases
and the pipeline has never been more promising. There
are more than 450 medicines currently in development for
rare diseases.24 Unprecedented scientific potential makes
this a promising time for many patients with rare diseases.
Maintaining incentives for research and development into
these complex and challenging disease areas is critical in
order to bring new medicines to patients.
More on Progress Against Rare Diseases
Celebrating Rare Disease Day: Spurring
Continued Innovation for Patients
A recent PhRMA report, A Decade of Innovation in
Rare Diseases, examines the significant progress made
over the past decade (2005-2015) across a broad range
of rare diseases, where new treatment options are having
a tremendous impact for patients. Find out more at:
http://www.phrma.org/sites/default/files/pdf/PhRMADecade-of-Innovation-Rare-Diseases.pdf
We’ve seen incredible advances in the development of
medicines to treat patients with rare diseases. Despite this
progress, there remains substantial unmet need for patients,
as only 5% of rare diseases today have available treatment
options.23 The biopharmaceutical industry is committed to
RARE DISEASES BY THE NUMBERS
Rare diseases affect
30 MILLION
AMERICANS
The FDA has approved more than
500 ORPHAN DRUGS
since the passage of the Orphan Drug Act
Source: U.S. FDA
THAT’S 1 IN 10
In the last 5 years, an average of more than
35%
OF ALL NEW DRUG APPROVALS
WERE FOR RARE DISEASES
Source: U.S. FDA Novel New Drug Summaries (2011-2015); calculated average from each report’s data.
In 2015 alone,
Source: Global Genes
Approximately
7,000
different rare diseases
exist today
Source: Global Genes
47%
47%
of new drug approvals
were for rare diseases
Source: U.S. FDA
80%
of rare diseases are
genetic in origin
Source: Global Genes
Approved treatments are available for
ONLY 5%
of all rare diseases
Source: Global Genes
There are more than
560 MEDICINES
in development for
RARE DISEASES
Source: PhRMA, Medicines in Development for Rare Diseases, 2016
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Endnotes
U.S. National Institutes of Health, National Human Genome Research Institute. “FAQ About Rare Diseases.” http://www.genome.gov/27531963.
1
Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/.
2
Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/.
3
4
Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/.
5
U.S. Department of Health and Human Services. “Fiscal Year 2017: Food and Drug Administration Justification of Estimates for Appropriations Committee.” http://www.fda.gov/
downloads/AboutFDA/ReportsManualsForms/Reports/BudgetReports/UCM485237.pdf.
U.S. Food and Drug Administration (FDA). “Orphan Drug Act, Relevant Excerpts.” http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/
HowtoapplyforOrphanProductDesignation/ucm364750.htm.
6
U.S. FDA. “Orphan Drug Act.” http://www.fda.gov/regulatoryinformation/legislation/significantamendmentstothefdcact/orphandrugact/default.htm.
7
U.S. FDA. “Orphan Drug Product designation database.” Accessed February 16, 2016. http://www.accessdata.fda.gov/scripts/opdlisting/oopd/
8
U.S. FDA. “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.
9
U.S. FDA Novel New Drug Summaries (2011-2015); calculated average from each report’s data.
10
Jenkins, J. “2015: Another Strong Year for Patients in Need of New Drug Therapies.” U.S. FDA. http://blogs.fda.gov/fdavoice/index.php/2016/01/2015-another-strong-year-forpatients-in-need-of-new-drug-therapies/.
11
U.S. FDA “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.
12
U.S. FDA. “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.
13
U.S. FDA. “FDA approves Darzalex for patients with previously treated multiple myeloma.” November 16, 2015. http://www.fda.gov/NewsEvents/Newsroom/
PressAnnouncements/ucm472875.htm.
14
U.S. FDA. “FDA approves Empliciti, a new immune-stimulating therapy to treat multiple myeloma.” November 30, 2015. http://www.fda.gov/NewsEvents/Newsroom/
PressAnnouncements/ucm474684.htm.
15
U.S. FDA. “Novel Drugs Summary 2015.” http://www.fda.gov/downloads/Drugs/DevelopmentApprovalProcess/DrugInnovation/UCM485053.pdf.
16
U.S. FDA. “FDA approves new treatment for cystic fibrosis.” July 2, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm453565.htm.
17
U.S. FDA. “FDA approves new treatment for rare metabolic disorder.” October 23, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm468836.htm.
18
U.S. FDA. “FDA approves first therapy for high-risk neuroblastoma.” March 10, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm437460.htm.
19
U.S. FDA. “FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients.” December 8, 2015. http://www.fda.gov/NewsEvents/Newsroom/
PressAnnouncements/ucm476013.htm.
20
U.S. FDA. “FDA approves new orphan drug to treat rare autosomal recessive disorder.” September 4, 2015. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/
ucm457867.htm.
21
U.S. FDA. “FDA approves Cholbam to treat rare bile acid synthesis disorders.” http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm438572.htm.
22
Global Genes. “Rare Disease: Facts and Statistics.” https://globalgenes.org/rare-diseases-facts-statistics/.
23
PhRMA. “Decade of Innovation in Rare Diseases.” 2015. http://www.phrma.org/sites/default/files/pdf/PhRMA-Decade-of-Innovation-Rare-Diseases.pdf.
24
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February 2016
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