Download 200 Rare Disease Therapies Scored in 2017 – New

200 Rare Disease Therapies
Scored in 2017 –
New Objective: 500 in 2027
Diego Ardigo and Yann Le Cam
Chair and Former Chair
IRDiRC Therapeutic Scientific Committee
1
In 2010,
the ambitious objective set
was to reach by 2020:
200 new Rare Disease Therapies.
Scored in 2016!
Which new Objective by 2027?
2
Why embarking in this objective?
“We set sail on this new sea because there is new knowledge to be
gained, and new rights to be won, and they must be won and used for
the progress of all people .
[…]
We choose to go to the moon. We choose to go to the moon in this
decade and do the other things, not because they are easy, but because
they are hard, because that goal will serve to organize and measure the
best of our energies and skills, because that challenge is one that we
are willing to accept, one we are unwilling to postpone, and one which
we intend to win, and the others, too.”
John F. Kennedy Moon Speech
Rice Stadium, September 12, 1962
Why IRDiRC ?
Practices
Guidelines
Patients’ role
Willingness
to fund
Regulations
Laws and
Policies
Society
vision
Financial
environment
Academia
Industry
NEW THERAPIES
Political
environment
Number of New
Rare Disease Treatments

Monthly update of number
of new indications for rare
diseases with our without
orphan status

Source: EMA and FDA
FUTURE:
Refined and expanded
counting system
Updated on www.irdirc.org
IRDiRC New Goals: 2017-2027

IS 1000 new therapies for orphan indications
approved in major geographical regions (EU,
US, Japan?) a possible goal?
From 35-40 new therapies approved/ year
Avreage step up + 10 / year
Goal around 150 new therapies/ year in 2027
Same primary assessment principle
Expanded and refined secondary metrics
TSC Membership
Diego Ardigo (Chair)
Virginie Hivert
•Chiesi Farmaceutici S.p.A. (Italy)
•EURORDIS - Rare Diseases Europe (France)
Annemieke Aartsma-Rus
Yann Le Cam (Immediate Past-Chair)
•Leiden University Medical Center (Netherlands)
•EURORDIS - Rare Diseases Europe (France/Belgium)
Seng H. Cheng
Sandrine Marreaud
•Genzyme (USA)
•EORTC (Belgium)
Robin Conwit
Akifumi Matsuyama
•NIH (USA)
•NIBIOHN (Japan)
Michela Gabaldo
Karin Rademaker
•San Rafaele Telethon Institute for Gene Therapy
•University Medical Centre (Netherlands)
Shuling Guo
Josep Torrent i Farnell (Past-Chair)
•Ionis Pharmaceuticals (USA)
•Spanish Medicines Agency (Spain)
Adam Heathfield
Anne Zajicek
•Pfizer (UK)
•NICHD (USA)
TSC Recommendations
Available on www.irdirc.org
www.irdirc.org/reports-guidelines/policies-guidelines/tsc-recommendations/
TSC Recommendations

TSC members agreed on recommendations to guide
policies and funding strategies
 To reach its goal of 200 new therapies by 2020


Based on IRDiRC Polices & Guidelines
Focus on the improvement of guidelines for:
 Clinical development of orphan drugs
 Alignment of scientific and regulatory guidance
 Enhancement of the continuous data collection and assessment
all along the life cycle of therapy.
Task Forces (TF)
Small Population Clinical Trials TF

Various challenges in RD clinical trials
 Disease prevalence
 Small or heterogeneous patient population
 Limited knowledge natural history
 High attrition rates

Small Population Clinical Trials (SPCT) Task Force:
 Contribute consensus about non-conventional design and
statistical methods used for small population studies
 Contribute to the acceptability of new statistical methods

Workshop EMA-IRDiRC + Report available
SPCT: Recommendations





Use gold standard, but look systematically at alternative designs:
cross-over design (-60 to 80% sample size); washout period;
group sequential design (-30%); longitudinal studies; survival trial
Promote better use of scientific advice from regulators to discuss
clinical trial design adapted to small populations;
Encourage multi-arm trials and plate-form trials ;
Safety data to combine different sources of data beyond clinical
trials data;
Patient’s engagement in study design is essential in set-up of RD
clinical trials; the earlier the better.
Patient-Centered Outcome Measures TF

Patient-Centered Outcome Measures (PCOM)
 Aim to place patients, their family and carers at the heart of
decisions concerning the benefit-risk and health technology
assessments

Types of clinical outcomes assessments
 Patient-reported outcomes
 Clinician-reported outcomes
 Observer-reported outcomes
 Performance-reported outcomes
 Biomarkers
PCOM Recommendations






PCOM for rare diseases are a necessity; PCOM are used to
measure real benefits for patients from their perspective;
Insertion in the design of registries and of clinical trials;
PCOM need to be relevant, useful, feasible in clinical practice;
usable both for regulatory and health technology assessment;
Look for validated instruments: seek qualification by
regulator; databases of items and guidelines available to
search and evaluate instruments; publish and share;
Use Common Data Elements by grouping rare diseases sharing
same functional disabilities;
Adapt tools, rather than develop new ones; develop through
collaboration
Data Mining and Repurposing TF

Data mining and drug repurposing hold enormous
potential for rare diseases

Maximizing rare disease drug development requires
strategic infrastructure investments
DMR: Recommendations






Improve the capture and sharing of patient data
Integrate better existing research data
Increase experimental and clinical testing capacity
Nurture rare disease research and development
expertise
Identify more repurposing candidates
Expand strategic business models for repurposing
development
Patient Engagement in Research TF

Goals
 Promote patient engagement in all RD research activities and all
along the product life cycle
 Provide guiding principles for policy and funding for the
engagement of patient groups or patient experts in research
activities

Scheduled work plan:
 Work will commence in 2S 2017
 Workshop in 2S 2017 or 1S 2018
Clinical Research Network for Rare
Diseases TF

Goals
 Build on experience gained and ongoing initiatives
 Develop policy recommendations for the establishment,
expansion, funding , selection criteria, of rare disease clinical
research networks, to enhance their global convergence, with
common strategies, functions and interoperability
 Identify tools and methods which could be shared across eg
common protocols for data collection and data repository,
infrastructures, natural history studies, longitudinal studies, clinical
trials recruitment and conduct, multi-arm and plate-form trials

Scheduled work plan:
 Work will commence in 2S 2017
 Workshop in 1S 2018
18
Proposed direction for future TFs…




Requirements and recommendations for public-private
partnerships aiming at developing shared registry-like studies
enabling continuum of research collaboration throughout drug
development (“from NHS to PASS”)
Horizon scanning for identifying initiatives and gaps to the
achievement of 2027 IRDiRC new therapies goal
Requirements and recommendations for initiatives of open
innovation in drug development
Define and support specificities for advanced therapies and oneoff treatments for rare diseases
 manufacturing trends, delivery model, pre-/post-approval data collection.
SELECTION & PRIORITIZATION
to come…