Call Girls in Gomti Nagar - 7388211116 - With room Service
SéGolèNe Aymé Eu Services Cluj Junel 09
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
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
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
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
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
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
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
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