www.orpha.net

State of the Arts of Services in Europe:

where are the problems ?

5the European Conference on Rare Diseases 2010

Krakow, Poland, 13 may 2010

segolene.ayme@inserm.fr

Paris, France

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Proper Health Care System•Infrastructures•Funding•Policy

Services addressing rarity

AVAILABILITY OF SERVICES

AFFORDABILITY OF SERVICES

Services for disabled:• Rehabilitation centres

National policy and social forums

Access to innovative therapies

Support to patient groups

Genetic services in each region:• Clinical services for diagnosis• Molecular/cytogenetics/biochemistry laboratories• Genetic counseling

Funding for network and registries

Neonatal screening for additional diseases if relevant

Specialised centres for disability due to RD

Academic research:• Funding bodies• Call for proposals

Neonatal screening for PKU and hypothyroidism

Centres of expertise by disease / group of diseases

Information in national languages:• Clinical guidelines

Networks of laboratories by level / External quality assessment

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National Centres of Expertise

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Designated centres of expertise: Positive effect documented in Denmark, France, Norway

Countries with official RD centres:• Denmark• France• Sweden• Norway• Italy• Spain

Countries with official expert centres:• Belgium

• Austria

• Czech Republic

• Germany

• Greece

• Netherlands

• Slovenia

• Switzerland

• UK

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European Reference Networks of Centres of Expertise

Call for proposals from DG Public Health since 2007

Calls for proposals from DG Research

since 2000

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Current Pilot European Reference Networksof Centres of Expertise

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 (Dyscerne)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

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Outcome so far….

Main areas for action:• Establishment of a common patient registry / of a network of

registries

• Establishment of a process to submit questions to the Experts Submission of questions and development of library of FAQs

Submission of clinical data for undiagnosed patients

• Development of clinical guidelines

Common problems• Funding for three years: Too short a period to produce any

meaningful results

• How to expand the network to cover more countries (criteria and funding)

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Molecular genetics services

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Diagnostic tests are part of quality healthcare

Orphanet and EuroGentest provide information

on available tests in Europe

and surrounding countries

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Major progresses in gene identification translated into diagnostic tests

Number of genes tested by country Number of diseases tested by country

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Genes tested in the greatest number of laboratories

297 genes are tested in 1 laboratory only (19%)

1,189 genes are tested in less than 10 labs (76%)

1,088 genes are tested in less than 5 countries (69%)

395 genes are tested in 1 country only (25%

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Quality Assurance of genetic services

107 laboratories are accredited for at least some part of their diagnostics activities:

CPA standards24

CCKL guidelines

ISO 15189

ISO 17025

7

37

25

14 1

432 laboratories participated in at least one External Quality Assessment scheme during the last 5 years through 46 different EQA organisations

: 198 participating laboratories

: 155 participating laboratories

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Availability of innovative treatments

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Over 60 new drugs on the EU market since 2000but major differences in availability and

accessibility at country level (source: Eurordis Survey)

20-21

15-19

10-14

5-9

0-5

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Information services

www.orpha.net

Information sources at country level

Orphanet portal: • only in 5 languages (English, French, German, Italian, Spanish) today, • in more languages soon with front pages in all languages

Country National information centres

National helplines

Bulgaria x x

Denmark x x

Finland x

France x x

Germany x

Italy x x

Norway x x

Sweden x

Spain x x

UK x x

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

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A common portal / A diversity of sources

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Challenges/Opportunities for Orphanet

Challenges• Size of the topic to be covered: 7,000 diseases• Quick turn-over of knowledge / new scientific facts• Quick turn-over of information technologies• Multilinguism in Europe: 23 « official » languages• Diversity of health care systems and research systems in

Europe

Opportunities• Core investment already made • Possibility to customise the website to adapt it to each country• Many new producers of information: learned societies, patient

organisations, networks• Well-established website: successful partnership with scientific

journals to provide free access to articles• New governance through a Joint Action in 2011

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Sources of data for clinical research

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395 Registries as strategic toolsNumber of patient registries per country

France 103

Germany 51

Great Britain 50

Italy 47

Spain 28

Belgium 19

Netherlands 10

Austria 13

Ireland 9

Portugal 7

Switzerland 6

Greece 2

Bulgaria 4

Denmark 3

Romania 2

Orphanet Report Series on Orphanet front page

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Characteristics of Patient Registries

Regional

National

European

Global

Academia

Patient organisation

Industry

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60 International Patient Registries around a medicinal product

Cystic fibrosis

Alpha 1 anti-trypsin

Bleeding disorders

Langerhans cell histiocytosis

Severe chronic neutropenia

Biliary atresia

Neuromuscular diseases

Wilson disease

Fanconi anemia

Pulmonary hypertension

Metabolic diseases: Gaucher, Fabry, Pompe, MPS1…

Ondine syndrome

Primary immunodeficiencies

Retinal dystrophies

Huntington disease

www.orpha.netEmergence of concepts and initiatives

Centres of expertise in Sweden

1990

2000 2002 2004 2006 2008 2010

Development of a community of stakeholders

Establishment of infrastructures

EU policy defined

Member States’ policy

OD officeof French Ministry

Eurordis

Orphanet France

EC communication

Orphanet Europe

OD regulation

Danish RD Centres French

Plan

RDTF EUCERD

Council Recommendation

ECRD Copenhagen

ECRD Paris

ECRD Luxembourg

ECRD Lisbon

ECRD Cracow

Danish information centre

BulgarianPlan

GreekPlan

PortugesePlan

SpanishStrategy

Italian RD decree

Swedishinformation centre

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Policy to develop services in MS

Adopted• 2004: French Plan / 2010: 2nd French Plan

• 2008: Portuguese Plan

• 2008: Greek Plan

• 2009: Bulgarian Plan

• 2009: Spanish Strategy

In preparation• Austria

• Belgium

• Czech Republic

• Germany

• Italy

• Romania

• UK

First steps taken• Cyprus

• Finland

• Luxembourg

• Lithuania

• Malta

• Norway

• Poland

• Sweden

• Turkey

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CONCLUSION

Still major discrepancies between countries, mainly due to differences in health care systems and economic situation

Necessity to agree on cross-border activities:• Networks: mix research and clinics – long term committment

• Establish a strategy for cross border biological testing

• Public/private partnership for patient registries

• Joint effort to produce clinical guidelines / information in general

Close surveillance of policy developments• EUCERD annual report at www.eucerd.eu

• OrphaNews Europe at www.orpha.net

Dialogue and cooperation between stakeholders• EUCERD as the tool

www.orpha.net

Report on initiatives and incentives 2009

www.eucerd.eu