SéGolèNe Aymé Eu Services Cluj Junel 09

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SéGolèNe Aymé Eu Services Cluj Junel 09

  1. 1. Services to patients in Europe in the field of rare Diseases: where do we stand ? Ségolène Aymé Orphanet INSERM, Paris, France Balkan congress - Cluj - 26 June 2009
  2. 2. Accessibility of information Balkan congress - Cluj - 26 June 2009
  3. 3. Information sources at country level  National Information centres: France and Sweden  National website/helpline by governmental agencies – Belgium, Bulgaria, Denmark, France, Netherlands, Norway, Sweden – In preparation: Greece, Hungary, Italy  National website/helpline by patient/professional organisation – Italy, Netherland, Spain, UK Balkan congress - Cluj - 26 June 2009
  4. 4. A portal in five languages, soon more, serving all stakeholders…. Balkan congress - Cluj - 26 June 2009
  5. 5. Accessed every day by over 20 000 users Balkan congress - Cluj - 26 June 2009
  6. 6. Now the reference portal of rare diseases and orphan drugs in 38 countries….  Database – of Rare Diseases 5 858 – of active substances 727  Directory of – Expert clinics 3 619 – Research projects 5 567 – Clinical trials 692 – Testing labs 1 205 – Professionals 11 851 – Support groups 1 839 Balkan congress - Cluj - 26 June 2009
  7. 7. Orpha nomenclature of diseases Identity card Unique Orpha number •Stable what ever is the evolution of knowledge •Linked to parent and child diseases in every classification Indexation with ICD10 codes: 2,074 diseases Indexation with MIM codes: 4,381 diseases Epidemiology •Indexed with class of prevalence: 2,508 diseases •Indexed with mode of inheritance: 2,658 diseases •Indexed with age of onset: 2,560 diseases Direct link to PubMed: 2,510 diseases Files available on request Suitable to code clinical activitycongress - Cluj - 26 June 2009 Balkan / lab activity
  8. 8. Encyclopaedia in 5 langages Detailed abstracts: English: 2,553 summary information French: 2,480 summary information German: 2,071 summary information Italian: 2,248 summary information Spanish: 932 summary information Clinical signs Review articles : 466 review articles in English 335 review articles in French Balkan congress - Cluj - 26 June 2009
  9. 9. Orphanet directory of 2,500 rare diseases published at national level Balkan congress - Cluj - 26 June 2009
  10. 10. Expert clinics and European Reference Networks Balkan congress - Cluj - 26 June 2009
  11. 11. Expert centres for RD  Group 1: Official expert centres for RD – Denmark, France, Italy,Norway, Sweden  Group 2: Official expert centres not specifically for RD – Belgium, Croatia, Czech R., England, Finland, Grece, Ireland, Portugal  Group 3: Expert centres established only by reputation – Almost all other countries Balkan congress - Cluj - 26 June 2009
  12. 12. Balkan congress - Cluj - 26 June 2009
  13. 13. Balkan congress - Cluj - 26 June 2009
  14. 14. II- European Reference Networks Balkan congress - Cluj - 26 June 2009
  15. 15. Pilot Networks to be evaluated….  European network of paediatric Hodgkin’s lymphoma Project Leader: University of Leipzig (D)  European Network of Reference for Rare Paediatric Neurological Diseases (NEUROPED) Project Leader: European Network for Research on Alternating Hemiplegia (AT)  A reference network for Langerhans cell histiocytosis and associated syndromes Project Leader: Assistance Publique Hôpitaux de Paris (FR)  European Centres of Reference Network for Cystic Fibrosis (ECORN-CF). Project leader - Klinikum der Johann Wolfgang Goethe-Universität, Germany.:  European Network of Centres of Reference for Dysmorphology. Project leader - University of Manchester, UK.  Patient Associations and Alpha1 antitrypsin International Registry (PAAIR). Project leader - Stichting Alpha1 International Registry, the Netherlands.  European Porphyria Network - providing better healthcare for patients and their families (EPNET). Project leader - Assistance Publique - Hôpitaux de Paris, France.  European Network of Rare Bleeding Disorders Project leader - Università degli Studi di Milano, Italy Balkan congress - Cluj - 26 June 2009
  16. 16. Availability of diagnostic tests Balkan congress - Cluj - 26 June 2009
  17. 17. Evolution of data collection: From 2001 to present 1,288 clinical laboratories In 32 countries - 69 with accreditation - 199 EQA-participating - 50 with certification Balkan congress - Cluj - 26 June 2009
  18. 18. Balkan congress - Cluj - 26 June 2009
  19. 19. Very few diseases are tested throughout Europe Examples: Cystic fibrosis is tested in 32 countries Fragile X syndrome in 25 countries 591 diseases are tested in Balkan congress - Cluj - 26 June 2009 countries only one of the Orphanet
  20. 20. Differences in genetic testing offer Number of diseases: ≥ 500 200 - 499 100 - 199 20 - 99 0 - 19 15,665 diagnostic tests for 1,895 diseases are offered for genetic disease in molecular genetics, biochemical genetics and molecular cytogenetics Balkan congress - Cluj - 26 June 2009
  21. 21. On-going research and Therapy development Balkan congress - Cluj - 26 June 2009
  22. 22. Directory of research activities in numbers  Research projects : – 5,392 research projects in 2,931 labs – About 1,293 diseases in 36 countries  Clinical trials : – 852 trials for 263 diseases, testing for 149 substances in 24 countries  Orphan drugs: – 692 active substance for 394 diseases – 55 European Orphan Drugs Balkan congress - Cluj - 26 June 2009
  23. 23. Database of publicly funded research projects Balkan congress - Cluj - 26 June 2009
  24. 24. Number of research projects by category Our multi-classification system of research projects means that the total number of projects classified by categories (here 5877) will be higher than the number of projects really present in the database (5582, including patient databases and biobanks) Balkan congress - Cluj - 26 June 2009
  25. 25. Number of clinical trials by category 782 research projects classified into 4 categories Balkan congress - Cluj - 26 June 2009
  26. 26. Distribution of the number of research projects by disease Balkan congress - Cluj - 26 June 2009
  27. 27. 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 Balkan congress - Cluj - 26 June 2009
  28. 28. Disease name Prevalence Cystic fibrosis 1-5 / 10 000 Leukemia, lymphoblastic, acute 1-9 / 100 000 Breast cancer, familial 1-5 / 10 000 Leukemia, myeloblastic, acute Not yet on Orphanet Huntington disease 1-9 / 100 000 Leukemia, myelomonocytic, acute Not yet on Orphanet Leukemia, monoblastic/monocytic , acute Not yet on Orphanet Duchenne and Becker muscular dystrophy 1-9 / 100 000 Chronic myeloid leukemia 1-9 / 100 000 Leukemia, promyelocytic, acute 1-9 / 100 000 TOP100 Tests & Colon cancer, familial nonpolyposis Unknown TOP100 Friedreich ataxia 1-9 / 100 000 Fabry disease 1-9 / 100 000 Research Follicular lymphoma Trisomy 21 1-5 / 10 000 1-5 / 10 000 Fragile X syndrome 1-5 / 10 000 Beta-thalassemia 1-9 / 1 000 000 Emery-Dreifuss muscular dystrophy 1-9 / 1 000 000 Metachromatic leukodystrophy 1-9 / 1 000 000 Steinert myotonic dystrophy 1-9 / 100 000 Rett syndrome 1-9 / 100 000 Nonsyndromic genetic deafness Not yet on Orphanet Williams syndrome 1-5 / 10 000 Familial adenomatous polyposis 1-9 / 100 000 Pheochromocytoma and secreting paraganglioma 1-5 / 10 000 Leber hereditary optic neuropathy 1-9 / 100 000 Adrenoleukodystrophy, X-linked 1-9 / 100 000 Sickle cell anemia 1-5 / 10 000 Balkan congress - Cluj - 26 June 2009 NARP/MILS syndrome 1-9 / 100 000
  29. 29. Conclusion  Necessity to spread information in all languages  Necessity to share knowledge: national clinical guidelines, gene dossier, emergency guidelines  Necessity to think services at EU level – Cross border testing – Telemedicine  Necessity to provide funding to research networks Balkan congress - Cluj - 26 June 2009
  30. 30. Keep updated: OrphaNews Europe  Online newsletter of the Rare Diseases Task Force  Over 8,000 registered  Readers  Political News  Scientific News  Events  Publications  Register on Orphanet website Balkan congress - Cluj - 26 June 2009

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