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REPORT ON RARE DISEASE RESEARCH, ITS DETERMINANTS IN EUROPE AND THE WAY FORWARD Table of contents INTRODUCTION ............................................................................................................................. 6 1. RARE DISEASES AS AN ISSUE IN RESEARCH .......................................................................... 7 1.1. Definition of rare diseases ................................................................................................. 7 1.2. Specificities of research in the field of RD ........................................................................... 8 1.2.1. Identification of the genetic mechanisms of RDs ............................................................................ 8 1.2.2. Natural history of RDs ...................................................................................................................... 8 1.2.3. RDs as models for common diseases ............................................................................................... 8 1.2.4. RDs as a driver for innovation .......................................................................................................... 9 2. INITIATIVES AND INCENTIVES TO BOOST RESEARCH IN THE FIELD OF RDS ............................. 9 2.1. Initiatives and incentives at the level of the European Commission .................................... 9 2.1.1. European Commission & EMA ......................................................................................................... 9 2.1.1.1. Orphan Medicinal Product Regulation ........................................................................................ 9 2.1.1.2. Other regulations impacting on R&D in the field of RDs .......................................................... 10 2.1.1.3. EMA - FDA joint effort to promote good clinical practices ....................................................... 11 2.1.2. Actions of the European Commission in the field of Public Health .............................................. 11 2.1.3. Actions of the European Commission in the field of Research ..................................................... 12 2.2. Initiatives and incentives at the level of European countries ............................................. 14 2.2.1. E-Rare: national research programmes on rare diseases coordinated at the European level ..... 14 2.2.2. Initiatives and Incentives at the Member States level .................................................................. 16 2.2.2.1. AUSTRIA ...................................................................................................................................... 16 2.2.2.2. BELGIUM ..................................................................................................................................... 17 2.2.2.3. BULGARIA ................................................................................................................................... 17 2.2.2.4. CYPRUS ....................................................................................................................................... 18 2.2.2.5. CZECH REPUBLIC ......................................................................................................................... 18 2.2.2.6. DENMARK ................................................................................................................................... 19 2.2.2.7. ESTONIA ...................................................................................................................................... 19 2.2.2.8. FINLAND ..................................................................................................................................... 20 2.2.2.9. FRANCE ....................................................................................................................................... 21 2.2.2.10. GERMANY ............................................................................................................................... 22 2.2.2.11. GREECE ................................................................................................................................... 23 2.2.2.12. HUNGARY ............................................................................................................................... 24 2.2.2.13. IRELAND ................................................................................................................................. 25 2.2.2.14. ITALY ....................................................................................................................................... 26 2.2.2.15. LATVIA .................................................................................................................................... 27 2.2.2.16. LITHUANIA.............................................................................................................................. 27 2.2.2.17. LUXEMBOURG ........................................................................................................................ 28 2.2.2.18. MALTA .................................................................................................................................... 28 2.2.2.19. THE NETHERLANDS ................................................................................................................ 28 2.2.2.20. POLAND .................................................................................................................................. 30 2.2.2.21. PORTUGAL .............................................................................................................................. 30 2.2.2.22. ROMANIA ............................................................................................................................... 31 2.2.2.23. SLOVAK REPUBLIC .................................................................................................................. 31 2.2.2.24. SLOVENIA ............................................................................................................................... 31 2.2.2.25. SPAIN ...................................................................................................................................... 32 Page 4 of 71
REPORT ON RARE DISEASE RESEARCH, ITS DETERMINANTS IN EUROPE AND THE WAY FORWARD 2.2.2.26. SWEDEN ................................................................................................................................. 34 2.2.2.27. UNITED KINGDOM ................................................................................................................. 35 2.2.3. Initiatives and Incentives in other European countries................................................................. 37 2.2.3.1. CROATIA ..................................................................................................................................... 37 2.2.3.2. NORWAY ..................................................................................................................................... 37 2.2.3.3. SWITZERLAND ............................................................................................................................ 38 2.2.3.4. TURKEY ....................................................................................................................................... 39 2.3. Initiatives and incentives in the USA ................................................................................ 39 3. STATE OF THE ART OF RESEARCH AND OF R&D IN 2011 ................................................... 41 3.1. State of the art of Research in Europe according to Orphanet data ................................... 41 3.2. State of the art of testing for rare diseases ....................................................................... 42 3.3. State of the art of therapeutic development .................................................................... 44 3.3.1. Current landscape of R&D/Therapy development ........................................................................ 44 3.3.1.1. Pipeline of products in Europe................................................................................................... 44 3.3.1.2. Orphan designations for orphan medicines .............................................................................. 45 3.3.1.3. Marketing authorisations for orphan medicines ...................................................................... 45 3.3.2. Determinants of R&D ..................................................................................................................... 46 3.3.2.1. Prevalence of RDs as a determinant .......................................................................................... 46 3.3.2.2. Medical area as a determinant in Europe ................................................................................. 46 3.3.2.3. Medical area as a determinant in the USA ................................................................................ 51 3.3.2.4. Contribution of European countries to the R&D process ......................................................... 52 3.3.2.5. The case of medical devices ....................................................................................................... 54 3.3.3. Other considerations regarding the field of R&D .......................................................................... 54 3.4. Research infrastructures .................................................................................................. 57 3.4.1. Disease registries ............................................................................................................................ 57 3.4.2. Ontologies and Bioinformatics for Rare Disease Research ........................................................... 59 3.4.2.1. Ontologies for RDs ..................................................................................................................... 59 3.4.2.2. Next-generation sequencing (NGS) technologies ..................................................................... 60 3.4.2.3. Computational standards and central databases ..................................................................... 61 3.4.2.4. New knowledge management environment............................................................................. 62 3.5. Conclusions and recommendations in the field of data repositories .................................. 63 4. WHAT COULD BE PROPOSED – ISSUES TO HIGHLIGHT FOR THE FUTURE AND SUGGESTIONS 64 4.1. Funding of European collaboration and continuity in action ............................................. 64 4.2. Incentives for clinical trials in the US which do not exist in Europe .................................... 64 4.3. Expanding knowledge and databases ............................................................................... 65 4.4. International initiative to be launched ............................................................................. 66 4.5. Points for action .............................................................................................................. 66 4.5.1. On funding processes ..................................................................................................................... 66 4.5.2. To address the specificities of research in the field of rare diseases ............................................ 67 4.5.3. To make the most of data repositories and information technologies ........................................ 67 4.5.4. To ensure that patients and families will benefit from research outcomes ................................. 67 BIBLIOGRAPHY .......................................................................................................................... 68 Page 5 of 71
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