Orphanet: The European Portal for Rare Diseases

1. Orphanet: The European
Portal for Rare Diseases
A Community Tool
WWW.ORPHA.NET
Katia Marazova

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. 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. 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. 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

7. Orphanet website in 5 languages:
English, French, German, Italian,
Spanish
The n°1 Portal
in the world

9. 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

10. I. Inventory of rare diseases
Unique in the world
At the disposal of the Community
intended for information systems

11. 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

12. 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

13. 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

14. Nomenclature and classifications
A service unique in the world
Since October 2008

15. 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

20. 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 …

21. II. Encyclopaedia in 5 langages
Detailed abstracts
Review articles

22. 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

23. 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

24. 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

25. Open Access Charter
The article is universally and freely
accessible via the Internet, in an easily
readable format and deposited immediately
upon publication

26. Edition of Books by country

27. III. European directory
of expert resources

28. 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

29. B. Directory of medical laboratories
Searchable by disease, by gene, by
location, by institution
With information on quality management
In cooperation with EuroGentest

30. …

31. 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

32. 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

36. D. Directory of 1,839 patient organisations
Searchable by disease, by location, by
name or acronym

37. 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

38. Governance

39. 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

40. Governance

41. Supported by DG Sanco (Orphanet contract)
Supported by DG Research (RDPlatform contract)

42. An Elaborate Organisation
In collaborating
In Paris
countries
Coordination
Collection of data
Classification of diseases
Validation by a scientific
Encyclopaedia
advisory committee
Data server

43. Orphanet funding

44. 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

45. Contribution by country
France
European Commission
Germany
Italy
Spain
Switzerland

46. Orphanet users: 20 000 pages accessed daily from
190 countries

47. 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%

48. 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

49. Enjoy the Orphanet services
Join the network of experts