Orphanet: The European Portal for Rare Diseases

A Community ToolWWW.ORPHA.NET

Katia Marazova

Definition of a rare disease

•• A condition affecting less than one personA condition affecting less than one personin 2000in 2000

•• The The European Commission on Public HealthEuropean Commission on Public Healthdefines rare defines rare diseases as "lifediseases as "life--threatening or chronically debilitating threatening or chronically debilitating diseases as "lifediseases as "life--threatening or chronically debilitating threatening or chronically debilitating diseases, which are of such low prevalence that special diseases, which are of such low prevalence that special

combined efforts are needed to address them (CE combined efforts are needed to address them (CE 141/2000). 141/2000).

•• Impairment of the vital prognosis in half of all cases, Impairment of the vital prognosis in half of all cases, responsible for 35% death before age of 1 year old, 10% responsible for 35% death before age of 1 year old, 10% between 1 and 5 years old and 12% between age 5between 1 and 5 years old and 12% between age 5--15.15.

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– 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

Orphanet was established Orphanet was established to address identified problems…..to address identified problems…..

Lack of informationLack of information Encyclopaedia of rare diseasesEncyclopaedia of rare diseases

Scarse expertiseScarse expertise Directory of experts/clinicsDirectory of experts/clinics

Too few collaborationsToo few collaborations Directory of research projectsDirectory of research projects

Difficult recruitmentDifficult recruitment

Lack of partnershipLack of partnership

OnOn--line service to register as line service to register as a volunteera volunteerDirectory of clinical trialsDirectory of clinical trials

OrphanXchangeOrphanXchange

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

• 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

Orphanet website in 5 languages:English, French, German, Italian,

SpanishSpanish

The n°1 Portal

in the world

Orphanet products• Inventory of rare diseases as a nomenclature

• Poly-hierarchy classification system

• Encyclopaedia of diseases

• Search by sign facility• Search by sign facility

• Inventory of orphan drugs

• Directory of expert services in Europe

• Newsletters in French and English

• Report series on transversal issues

I. Inventory of rare diseases

Unique in the world

At the disposal of the Community intended for information systems

Classifications

Clinical signs (Orphanet controlled

vocabulary)

ICD-10

Mode of inheritance

Epidemiological data:

PrevalenceAge of onsetAge of death

RareDiseaseORPHAnumber

Genes

PubMed query MeSH descriptors

OMIM number

number

Unique Orpha number•Stable what ever is the evolution of knowledge•Linked to parent and child diseases in every classification

Identity card

Orpha nomenclature of diseasesOrpha nomenclature of diseases

Indexation with ICD10 codes: 2,074 diseasesIndexation with MIM codes: 4,381 diseases

Direct link to PubMed: 2,510 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

Files available on requestSuitable to code clinical activity / lab activity

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

Nomenclature and classifications

A service unique in the world

Since October 2008

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

ICD RevisionsInternational Classification of Diseases

139

161

179

189

205

200

954

965

1,04

0

1,16

4

8,17

3

1,96

7

14,4

73

214

100

1000

10000

100000

With the courtesy of WHO… BUILDING BLOCKS OF HEALTH

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ICD

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ICD

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ICD

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ICD

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ICD

5

ICD

6

ICD

7

ICD

8

ICD

9

ICD

-9-M

ICD

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ICD

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1853 1893 1900 1909 1920 1929 1938 1948 1955 1968 1975 1979 1993 1993

II. Encyclopaedia in 5 langagesII. Encyclopaedia in 5 langages

Detailed abstracts

Review articles

Orphanet EncyclopaediaOrphanet Encyclopaediafor professionals in numbersfor professionals in numbers

• Detailed abstracts :– 2,553 summary information in English– 2,480 summary information in French– 2,071 summary information in German– 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

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� Open access

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

� Open Access Charter

� The article is universally and freely � The article is universally and freely accessible via the Internet, in an easily readable format and deposited immediately upon publication

Edition of Books by country

III. European directory of expert resourcesof expert resources

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

B. Directory of medical laboratories

Searchable by disease, by gene, by location, by institutionlocation, by institution

With information on quality managementIn cooperation with EuroGentest

…

C. Directory of C. Directory of research activitiesresearch 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

27 categories of over 5,000 research projects in Orphanet27 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 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

D. Directory of 1,839 patient organisations

Searchable by disease, by location, by Searchable by disease, by location, by name or acronym

E. Information about orphan drugs

Objectives

� Information on orphan drugs� Information on European policy and

its regulationits regulation�Transparency of clinical trials

Key figures

50 orphan drugs in Europe

600 European designations

774 clinical trials in 24 countries

Governance

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

GovernanceGovernance

Supported by DG Sanco (Orphanet contract)

Supported by DG Research (RDPlatform contract)

An Elaborate Organisation

In collaboratingcountries

� Collection of data

� Validation by a scientific

advisory committee

In Paris

� Coordination

� Classification of diseases

� Encyclopaedia

� Data server

Orphanet funding

Orphanet budget 2 Million Euros in 2009

INSERM

French ministry of Health

French TelethonFrench 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

Contribution by country

FranceFrance

European Commission

Germany

Italy

Spain

Switzerland

Orphanet users: 20 000 pages accessed daily from190 countries

Websites as public health instruments

Website Users

Teachers and students10.8%

Other health professionals8.3%

Communication professionals

1.6%

Patients, friends, and families

29.8%

8.3%

Paramédicaux4.6%

Pharmacists1.3%

Biologists2.5%

Private practitioners 8.1%

Other users8.8%

Rare disease experts 4.4%

Hospital physicians 19.8%

�To disseminate appropriate information to all stakeholders

OrphanetOrphanet : The Goals: The Goals

�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 forpatients with rare diseases

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