2009 Convegno Malattie Rare Marazova [22 01]

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Orphanet: The European
Portal for Rare Diseases

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2009 Convegno Malattie Rare Marazova [22 01]

  1. 1. Orphanet: The European Portal for Rare Diseases A Community Tool WWW.ORPHA.NET Katia Marazova
  2. 2. Definition of a rare disease • A condition affecting less than one person in 2000 • The European Commission on Public Health defines rare diseases as quot;life-threatening or chronically debilitating quot;life- diseases, which are of such low prevalence that special combined efforts are needed to address them (CE 141/2000). • Impairment of the vital prognosis in half of all cases, responsible for 35% death before age of 1 year old, 10% between 1 and 5 years old and 12% between age 5-15. 5-
  3. 3. Rare Diseases: a priority in Europe… • In Public Health – Since 1999 in the field of information – European Communication 2008: « Rare Diseases: Europe’s challenges » – French national action plan 2004-2008 • In Research – In Calls from the European Commission – In national calls: France, Germany, Spain, Bulgaria… • In Drug Development – Orphan Drug Act December 1999 – 50 new drugs on the market since – 600 drugs in development
  4. 4. Orphanet was established to address identified problems….. Lack of information Encyclopaedia of rare diseases Scarse expertise Directory of experts/clinics Too few collaborations Directory of research projects On- On-line service to register as Difficult recruitment a volunteer Directory of clinical trials Lack of partnership OrphanXchange
  5. 5. Orphanet history • 1997: Establishment by INSERM with the support of the French Ministry of Health • Since 2000: Support from DG Public Health to the extension of the data collection – RD Portal contract • Since 2004: Support from DG Research to the database of research activities – RD Platform contract
  6. 6. Orphanet website in 5 languages: English, French, German, Italian, Spanish The n°1 Portal in the world
  7. 7. Orphanet products • Inventory of rare diseases as a nomenclature • Poly-hierarchy classification system • Encyclopaedia of diseases • Search by sign facility • Inventory of orphan drugs • Directory of expert services in Europe • Newsletters in French and English • Report series on transversal issues
  8. 8. I. Inventory of rare diseases Unique in the world At the disposal of the Community intended for information systems
  9. 9. Epidemiological data: Prevalence Age of onset Mode of Age of death Classifications inheritance Clinical signs (Orphanet ICD-10 controlled Rare vocabulary) Disease ORPHA number OMIM number Genes PubMed query MeSH descriptors
  10. 10. 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 activity / lab activity
  11. 11. Orphanet inventory of diseases • Free access at www.orpha.net • Relational database of 4,969 rare diseases • Encyclopaedia in 6 languages: 2,464 diseases • Classifications: 4,969 diseases • Genes (Genatlas): 2,064 diseases • Proteins (SwissProt): 2,018 diseases • ICD10: 2,143 diseases • MIM (Mendelian Inheritance in Man): 2,957 diseases • MeSH : 2,507 diseases • Class of prevalence : 2,617 diseases • Mode of inheritance: 2,751 diseases • Age of onset: 2,693 diseases • Age of death: 1,067 diseases
  12. 12. Nomenclature and classifications A service unique in the world Since October 2008
  13. 13. Disease: a concept linked to level of knowledge • Recognisable pattern of signs and symptoms – Clinical approach • with a unique mechanism – Physiopathological approach • with unique course and prognosis – Clinical evolution approach • with a unique response to intervention and treatment • with an established cause – Genetic origin
  14. 14. ICD Revisions International Classification of Diseases 100000 14,473 8,173 10000 1,967 1,164 1,040 954 965 1000 214 205 200 189 179 161 139 100 10 1 D-9-M D-10-M Farr/d'Espine ICD 1 ICD 2 ICD 3 ICD 4 ICD 5 ICD 6 ICD 7 ICD 8 ICD 9 IC 10 Bertillon D IC IC 1853 1893 1900 1909 1920 1929 1938 1948 1955 1968 1975 1979 1993 1993 … BUILDING BLOCKS OF HEALTH With the courtesy of WHO INFORMATION …
  15. 15. II. Encyclopaedia in 5 langages Detailed abstracts Review articles
  16. 16. Orphanet Encyclopaedia for professionals in numbers • Detailed abstracts : – 2,553 summary information in English – 2,480 summary information in French – 2,071 summary information in German – 2,248 summary information in Italian – 932 summary information in Spanish • Review articles : – 466 review articles in English – 335 review articles in French
  17. 17. Orphanet review articles in OJRD Orphanet Journal of Rare Diseases Review articles written by international experts and peer-reviewed Indexed on Medline – IF = 1.30 Open access
  18. 18. Practical Genetics series Partnership with the European Journal of Human Genetics (Nature Publishing Group) • Articles on the practical applications of genetic research in the Practical genetics series ORPHANET 10 ans au service des maladies rares PARIS 15 Février 2007
  19. 19. Open Access Charter The article is universally and freely accessible via the Internet, in an easily readable format and deposited immediately upon publication
  20. 20. Edition of Books by country
  21. 21. III. European directory of expert resources
  22. 22. A. Directory of expert clinics in Orphanet • Searchable by disease, by category of disease, by type of clinic, by location, by institution, by name of professional • 3,619 expert clinics in 2,430 institutions in 40 countries – 3,271 paediatric clinics – 2,550 adult clinics – 3,158 Medical management clinics – 437 Genetic counselling clinics
  23. 23. B. Directory of medical laboratories Searchable by disease, by gene, by location, by institution With information on quality management In cooperation with EuroGentest
  24. 24.
  25. 25. C. Directory of research activities Searchable by disease, by gene, by type of research, by location, by institution, by professional • 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 – 47 European Orphan Drugs
  26. 26. 27 categories of over 5,000 research projects in Orphanet • Gene(s) / Mutation(s) search • Gene expression profile • Genotype-phenotype correlation • In vitro functional study • Animal model creation / Study • Human pathophysiology study • Biobanks/ Collection of biological material • Patient registry/ Database • Identification of biomarkers • Gene therapy preclinical study • Cell therapy preclinical study • Preclinical drug development • Preclinical vaccine development • Preclinical diagnostic tool /Protocole development • Preclinical medical device / Instrumentdevelopment • Antibody development • Protein recombinant development • Small molecule development • Oligonucleotide development • Epidemiological study • Natural history of disease study • Health sociology study • Health economics study • Public health study
  27. 27. D. Directory of 1,839 patient organisations Searchable by disease, by location, by name or acronym
  28. 28. E. Information about orphan drugs Objectives Information on orphan drugs Information on European policy and its regulation Transparency of clinical trials Key figures 50 orphan drugs in Europe 600 European designations 774 clinical trials in 24 countries
  29. 29. Governance
  30. 30. Orphanet management structure • At International level – Steering committee (Inserm + French ministry of health + DG Public Health) – Management board (Orphanet country coordinators assembly) – International editorial board of the encyclopaedia – International board of experts (experts to advise the setering committee) • At national level – National scientific advisory board (experts from each specialty) to advise the country coordinator on expert resources from the country
  31. 31. Governance
  32. 32. Supported by DG Sanco (Orphanet contract) Supported by DG Research (RDPlatform contract)
  33. 33. An Elaborate Organisation In collaborating In Paris countries Coordination Collection of data Classification of diseases Validation by a scientific Encyclopaedia advisory committee Data server
  34. 34. Orphanet funding
  35. 35. Orphanet budget 2 Million Euros in 2009 INSERM French ministry of Health French Telethon Groupama Foundation LEEM (Pharma industry) DG Public Health DG Research Italian ministry of health Land Saxony in Germany Swiss canton Ciberer in Spain Other
  36. 36. Contribution by country France European Commission Germany Italy Spain Switzerland
  37. 37. Orphanet users: 20 000 pages accessed daily from 190 countries
  38. 38. Websites as public health instruments Website Users Patients, friends, and families Teachers and 29.8% students 10.8% Communication professionals 1.6% Other health professionals 8.3% Other users Paramédicaux 8.8% 4.6% Pharmacists 1.3% Rare disease Biologists experts 2.5% 4.4% Private practitioners Hospital physicians 8.1% 19.8%
  39. 39. Orphanet: Orphanet: The Goals To disseminate appropriate information to all stakeholders To promote the use of appropriate services in medical care and personal decision-making To contribute to research activities in the field of rare diseases and orphan drugs To help developing new drugs and devices for patients with rare diseases
  40. 40. Enjoy the Orphanet services Join the network of experts

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