Workshop 4 - "Presentation of the RD Platform fact finding study on the trends and determinants of rare disease research"


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Workshop 4 - Research
"Presentation of the RD Platform fact finding study
on the trends and determinants of rare disease research"
Virginie Hivert, Orphanet, France

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  • I’m pleased to present you….
  • It began in… and has just ended in … It has involved… Among others its aims was to improve the Orphanet website & the data collection on research information in the field of RD. The RD Platform project has also given us the opportunity to organize two workshops of experts. The main goal was to establish the state of the art in research in the field of rare diseases.
  • If we look at the global scheme of R&D process, the main issue is to convert ideas in actions. To go from hypothesis to proof of concept and first clinical evidence
  • Basic research goes on independantly from prevalence
  • Workshop 4 - "Presentation of the RD Platform fact finding study on the trends and determinants of rare disease research"

    1. 1. 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
    2. 2. RD Platform project <ul><li>Rare Disease Platform project: 3-year support action project of the EU’s 7th Framework Programme ( ) </li></ul><ul><li>From May 2008 to April 2011 </li></ul><ul><li>13 countries - led by Ségolène Aymé </li></ul><ul><li>Orphanet website ( ) & content improvement </li></ul><ul><li>Workshops of experts </li></ul><ul><li>State of art in research in the field of rare diseases </li></ul>
    3. 3. Specificities of research in the field of RD <ul><li>Strengths: </li></ul><ul><li>Identification of the genetic mechanism of RD </li></ul><ul><li>RD as models for common diseases </li></ul><ul><li>RD as driver for innovation – Industry interest for R&D </li></ul><ul><li>Weaknesses: </li></ul><ul><li>Natural history of RD – less known </li></ul><ul><li>Limitation for clinical research (number of patients) </li></ul><ul><li>Issues with regulation on clinical trials </li></ul><ul><li>Additional difficulty due to innovative approaches </li></ul><ul><li>Scarcity of experts </li></ul><ul><li>Huge necessity of networking </li></ul>
    4. 4. Research Death valley Development Critical mass of articles Pharmaceutical Innovation / Performance of country Experience of company on R&D Availability of registries Research into aetiology / pathophysiology Collaboration clinicians / researchers Academic funding Diagnostic test Registries Ideas Hypothesis Plausible assumption Evidence for marketing authorisation
    5. 5. Research in the field of RD: where do we stand ? 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) Stage of research Number of Projects Basic research 2750 Pre-clinical research 331 Clinical research 487 Diagnostic & Biomarkers 312
    6. 6. Number of research projects by disease classed by prevalence CF Diseases which are rare forms of non-rare diseases, and which beneficiate of research on general aspects of the group of diseases Basic research goes on independantly from prevalence
    7. 7. 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
    8. 8. R&D in the field of RD: where do we stand ? <ul><li>Potential products in development : Orphan designations as a proxy </li></ul><ul><ul><li>704 orphan designations (active) </li></ul></ul><ul><ul><li>for potentially treating 320 diseases </li></ul></ul><ul><li>Products in development: On-going clinical trials </li></ul><ul><ul><li>1200 ongoing unique trials </li></ul></ul><ul><ul><li>for potentially 400 diseases </li></ul></ul><ul><li>Products on the market: </li></ul><ul><ul><li>126 marketed drugs for treating almost 150 diseases </li></ul></ul><ul><ul><ul><li>61 drugs with MA and OD in Europe </li></ul></ul></ul><ul><ul><ul><li>65 drugs with MA but no OD in Europe </li></ul></ul></ul>
    9. 9. 514 Registries as strategic tools Medical areas concerned by patient registries Number of patient registries by country Patient registries coverage
    10. 10. Recommendations for research funding (1) <ul><li>National plans should have measures in the field of research </li></ul><ul><li>Have calls for proposal specific to RD to avoid counterselection due to low potential impact linked to rarity </li></ul><ul><li>Publicize the fact that RD are disease models for studying biological mechanisms, gene expression, gene-environment interaction and cell signaling </li></ul><ul><li>Harmonize the strategy of funding agencies to have a continuum </li></ul><ul><ul><li>Funding by Patient organisations and national agencies for the very first steps </li></ul></ul><ul><ul><li>Funding by E-Rare for first steps of collaborative European projects </li></ul></ul><ul><ul><li>Funding by the European Commission DG Research for mature collaborative projects </li></ul></ul>
    11. 11. Recommendations for research funding (2) <ul><li>Have funding mechanisms for </li></ul><ul><ul><li>networking between experts to define collaborative projects </li></ul></ul><ul><ul><li>for consensus meetings </li></ul></ul><ul><ul><li>for exploitation and analysis of common data </li></ul></ul><ul><li>Not start funding infrastructures (registries, platform of services, biobanks…) if sustainability is not foreseen at 5 years </li></ul><ul><li>Open possibility of long-term funding (5 years not 3 years) renewable for the coordination part </li></ul><ul><li>Develop public/private partnership </li></ul><ul><li>Academic funding for European clinical trials </li></ul><ul><ul><li>FP7 calls </li></ul></ul><ul><ul><li>ECRIN </li></ul></ul>
    12. 12. ECRIN-IA: European Clinical Research Infrastructures Network – Integrating Activity <ul><li>WP4: Structuring of a European hub and network for clinical research on rare diseases </li></ul><ul><li>1) establishment of a hub coupled to centres and networks and connected to ECRIN and its network of European Correspondents </li></ul><ul><li>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 </li></ul><ul><li>3) use this combined infrastructure to design and conduct multinational clinical studies on rare diseases </li></ul>
    13. 13. Recommandations for data collection <ul><li>Develop repositories of patient data </li></ul><ul><ul><li>Disease-specific registries </li></ul></ul><ul><ul><li>Global patient data repositories </li></ul></ul><ul><li>Develop platform of services to ease the establishment of data collections </li></ul><ul><ul><li>Tool kit: Shared tools, guidelines, templates </li></ul></ul><ul><ul><li>Repository of questionnaires, of governance rules </li></ul></ul><ul><li>Develop incentives for people to contribute to databases </li></ul><ul><ul><li>People like to download, not to upload </li></ul></ul><ul><ul><li>Should be rewarded in CVs </li></ul></ul><ul><li>Develop the semantic web: integration of data from heterogeneous sources </li></ul>
    14. 14. Thank you for your attention May our dreams become true with the development of IRDiRC (International Rare Disease Consortium) – Montreal, October 2011