www.orpha.net

Presentation of the RD Platform fact finding study

on the determinants of rare disease research trends

Eurordis Membership Meeting

Amsterdam, 14 May 2011

Virginie Hivert

Ségolène Aymé

Orphanet

www.orpha.net

RD Platform projectRare Disease Platform project: 3-year support action project of the EU’s 7th Framework Programme (www.rdplatform.org )

From May 2008 to April 2011

13 countries - led by Ségolène Aymé

Orphanet website (www.orpha.net ) & content improvement

Workshops of experts

State of art in research in the field of rare diseases

www.orpha.net

Specificities of research in the field of RD

Strengths:

Identification of the genetic mechanism of RD

RD as models for common diseases

RD as driver for innovation – Industry interest for R&D

Weaknesses:

Natural history of RD – less known

Limitation for clinical research (number of patients)

Issues with regulation on clinical trials

Additional difficulty due to innovative approaches

Scarcity of experts

Huge necessity of networking

www.orpha.netIdeasHypothesis

Plausible assumption

Evidence for marketing

authorisation

Research Death valley Development

Critical mass of articles

PharmaceuticalInnovation /

Performance of country

Experience of companyon R&D

Availability of registries

Research intoaetiology /

pathophysiology

Collaboration clinicians / researchers

Academic funding

Diagnostic testRegistries

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Research in the field of RD: where do we stand ?

Stage of research Number of Projects

Basic research 2750

Pre-clinical research 331

Clinical research 487

Diagnostic & Biomarkers 312

3880 research projects for 2100 rare diseases in 27 countries

2369 genes associated to 2306 rare diseases (2147 genes associated to 2134 rare diseases with exclusion of rare tumors

and syndromes with predispositon to cancer)

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CF

Diseases which are rare forms of non-rare diseases, and which beneficiate of research on general aspects of the group of diseases

Number of research projects by disease classed by prevalence

Basic research goes on independantly from prevalence

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Major advances in gene identification translating into diagnostic tests

Number of genes tested by country Top 25 of diseases tested in the greatest number of European countries

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R&D in the field of RD: where do we stand ?

Potential products in development : Orphan designations as a proxy• 704 orphan designations (active)

• for potentially treating 320 diseases

Products in development: On-going clinical trials• 1200 ongoing unique trials

• for potentially 400 diseases

Products on the market:• 126 marketed drugs for treating almost 150 diseases

61 drugs with MA and OD in Europe65 drugs with MA but no OD in Europe

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514 Registries as strategic tools

Medical areas concerned by patient registries Number of patient registries by country

Patient registries coverage

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Recommendations for research funding (1)

National plans should have measures in the field of research

Have calls for proposal specific to RD to avoid counterselection due to low potential impact linked to rarity

Publicize the fact that RD are disease models for studying biological mechanisms, gene expression, gene-environment interaction and cell signaling

Harmonize the strategy of funding agencies to have a continuum

• Funding by Patient organisations and national agencies for the very first steps

• Funding by E-Rare for first steps of collaborative European projects

• Funding by the European Commission DG Research for mature collaborative projects

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Recommendations for research funding (2)

Have funding mechanisms for

• networking between experts to define collaborative projects

• for consensus meetings

• for exploitation and analysis of common data

Not start funding infrastructures (registries, platform of services, biobanks…) if sustainability is not foreseen at 5 years

Open possibility of long-term funding (5 years not 3 years) renewable for the coordination part

Develop public/private partnership

Academic funding for European clinical trials

• FP7 calls

• ECRIN

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ECRIN-IA: European Clinical Research Infrastructures Network – Integrating Activity

WP4: Structuring of a European hub and network for clinical research on rare diseases1) establishment of a hub coupled to centres and networks and connected to ECRIN and its network of European Correspondents

2) development and adaptation of common tools for clinical research on rare diseases and mapping of expertise and resources throughout Europe for the following categories: centres and networks, patient registries, regulatory and ethical expertise, harmonised outcome measures, data and sample collection, training toolkits, quality assurance and monitoring, methodology. Dissemination of this information and provision of the tools

3) use this combined infrastructure to design and conduct multinational clinical studies on rare diseases

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Recommandations for data collection

Develop repositories of patient data• Disease-specific registries

• Global patient data repositories

Develop platform of services to ease the establishment of data collections• Tool kit: Shared tools, guidelines, templates

• Repository of questionnaires, of governance rules

Develop incentives for people to contribute to databases• People like to download, not to upload

• Should be rewarded in CVs

Develop the semantic web: integration of data from heterogeneous sources

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Thank you for your attention

May our dreams become true with the development of IRDiRC (International Rare

Disease Consortium) – Montreal, October 2011