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. Accessibility of information
Balkan congress - Cluj - 26 June 2009

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. A portal in five languages, soon more,
serving all stakeholders….
Balkan congress - Cluj - 26 June 2009

5. Accessed every day by over 20 000 users
Balkan congress - Cluj - 26 June 2009

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. 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. 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. Orphanet directory of 2,500 rare diseases published at
national level
Balkan congress - Cluj - 26 June 2009

10. Expert clinics and
European Reference Networks
Balkan congress - Cluj - 26 June 2009

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. Balkan congress - Cluj - 26 June 2009

13. Balkan congress - Cluj - 26 June 2009

14. II- European Reference Networks
Balkan congress - Cluj - 26 June 2009

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. Availability of diagnostic tests
Balkan congress - Cluj - 26 June 2009

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. Balkan congress - Cluj - 26 June 2009

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. 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. On-going research and
Therapy development
Balkan congress - Cluj - 26 June 2009

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. Database of publicly funded
research projects
Balkan congress - Cluj - 26 June 2009

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. Number of clinical trials by category
782 research projects classified into 4 categories
Balkan congress - Cluj - 26 June 2009

26. Distribution of the number of research
projects by disease
Balkan congress - Cluj - 26 June 2009

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. 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. 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. 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