VERA – Forward Visions on the European Research Area

VERA is funded by the European Union's FP7 programme for research,
technological development and demonstration under grant agreement no 290705

Rare Diseases: Europe's challenges

Code: A14

Primary project information

Lead: Commission of the European Communities
Type of activity: White paper
Date conducted: N/A
Date of Publication: 11.11.2008
Duration: N/A
Summary: Rare diseases are diseases with a particularly low prevalence; the European Union considers diseases to be rare when they affect not more than 5 per 10 000 persons in the European Union. This still nevertheless means than between 5 000 and 8 000 different rare diseases affect or will affect an estimated 29 million people in the European Union. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high European added-value. European cooperation can help to ensure that scarce knowledge can be shared and resources combined as efficiently as possible, in order to tackle rare diseases effectively across the EU as a whole.

The Commission has already taken specific steps in many areas to address the issues of rare diseases. Building on those achievements, this Communication on Europe's Challenges in the field of Rare Diseases aims to be an integrated approach document, giving clear direction to present and future Community activities in the field of rare diseases in order to further improve the access and equity to prevention, diagnosis and treatment for patients suffering from a rare disease throughout the European Union. Research on rare diseases has proved to be very useful to better understand the mechanism of common conditions such as obesity and diabetes, as they often represent a model of dysfunction of a single biological pathway. However, research on rare diseases is not only scarce, but also scattered in different laboratories throughout the EU. The lack of specific health policies for rare diseases and the scarcity of the expertise, translate into delayed diagnosis and difficult access to care. This results in additional physical, psychological and intellectual impairments, inadequate or even harmful treatments and loss of confidence in the health care system, despite the fact that some rare diseases are compatible with a normal life if diagnosed on time and properly managed. Misdiagnosis and non-diagnosis are the main hurdles to improving life-quality for thousands of rare disease patients. Under the responsibility of the Commission and the EMEA (the European Medicines Agency) a policy is already implemented in the field of Orphan Drugs. These drugs are called "orphans" because the pharmaceutical industry has little interest, under normal market conditions, in developing and marketing products intended for only a small number of patients suffering from very rare conditions.
The Orphan Medicinal Product Regulation (Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products1) was proposed to set up the criteria for orphan designation in the EU and describes the incentives (e.g. 10-year market exclusivity, protocol assistance, access to the Centralised Procedure for Marketing Authorisation) to encourage the research, development and marketing of medicines to treat, prevent or diagnose rare diseases. The EU policy for orphan drugs is a success. However, Member States do not yet ensure full access to each authorised orphan drug approved.
Financed by: European Commission’s Directorate General Research
Budget: N/A
Research area/market/industry/sector: health; rare diseases; orphan drugs; pharmaceutical industry; diagnostics; policy; regulation
Main report (full title): COMMUNICATION FROM THE COMMISSION TO THE EUROPEAN PARLIAMENT, THE COUNCIL, THE EUROPEAN ECONOMIC AND SOCIAL COMMITTEE AND THE COMMITTEE OF THE REGIONS on Rare Diseases: Europe's challenges - COM(2008) 679 final

GRAND CHALLENGES

Societal Challenges: research on rare diseases is not only scarce, but also scattered in different laboratories throughout the EU;Depending on the Member State and/or region where they live, EU citizens have unequal access to expert services and available care options
Societal Challenges Shortlist: scarce and scattered research on rare diseases; unequality in EU on available care options;
Health Challenges: Misdiagnosis and non-diagnosis are the main hurdles to improving life-quality for thousands of rare disease patients; The lack of specific health policies for rare diseases and the scarcity of the expertise;
translate into delayed diagnosis and difficult access to care
Health Challenges Shortlist: misdiagnosis of rare diseases; the lack of specific health policies; scarcity of expertise on rare diseases;

Summary of relevant aspects

Aspects of ERA Governance: fostering research on rare diseases, including cross-border cooperation and collaboration to maximise the potential of scientific resources across the EU; ensuring access to high-quality healthcare, in particular through identifying national and regional centres of expertise and foster their participation in European Reference Networks; ensuring mechanisms to gather national expertise on rare diseases and pool it together with European counterparts;
Other Aspects of Governance: - The Commission should be assisted by an EU Advisory Committee on Rare Diseases; The organisation of a European Rare Diseases day (29 February, a rare day) and European conferences to raise awareness of professionals and of the general public will also be encouraged;
- The Commission will produce an implementation report on this Communication - addressed to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on the basis of the information
provided by Member States;
- The Commission therefore proposes that Member States base themselves on common approach for addressing rare diseases, based on existing best practice, through the adoption of a Council Recommendation.
Background information: Rare diseases are diseases with a particularly low prevalence; the European Union considers diseases to be rare when they affect not more than 5 per 10 000 persons in the European Union. This still nevertheless means than between 5 000 and 8 000 different rare diseases affect or will affect an estimated 29 million people in the European Union. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high European added-value. European cooperation can help to ensure that scarce knowledge can be shared and resources combined as efficiently as possible, in order to tackle rare diseases effectively across the EU as a whole.
The Commission has already taken specific steps in many areas to address the issues of rare diseases. Building on those achievements, this Communication on Europe's Challenges in the field of Rare Diseases aims to be an integrated approach document, giving clear direction to present and future Community activities in the field of rare diseases in order to further improve the access and equity to prevention, diagnosis and treatment for patients suffering from a rare disease throughout the European Union.

Scenarios

Actions/solutions implied: OPERATIONAL ACTIONS TO IMPROVE RECOGNITION AND VISIBILITY OF RARE DISEASES:
1. Definition of rare diseases: A more refined definition taking into account both prevalence and incidence will be developed using the Health Programme resources and taking into account the nternational dimension of the problem;
2.Classification and codification of rare diseases : A working group on Classification and Codification of rare diseases will be created by the Commission. This working group could be appointed as Advisory Working Group by the WHO in the current ICD revision process;
3. Dissemination of knowledge and information on rare diseases:One key element for improving diagnosis and care in the field of rare diseases is to provide and disseminate accurate information in a format adapted to the needs of professionals and of affected persons.;
4. Disease information networks Priorities for action regarding the existing (or future) specific disease information networks are: o guarantee the exchange of information via existing European information networks; to promote better classification of particular diseases; to develop strategies and mechanisms for exchanging information between stakeholders; to develop comparable epidemiological data at EU level; and to support an exchange of best practices and develop measures for patient groups.
OPERATIONAL ACTIONS TO DEVELOP EUROPEAN COOPERATION AND IMPROVE ACCESS TO HIGH-QUALITY HEALTHCARE FOR RARE DISEASES :
1. Improving universal access to high-quality healthcare for rare diseases, in particular through development of national/regional centres of expertise and establishing EU reference networks;
2. Access to specialised social services;
3. Access to Orphan Drugs;
4. Compassionate use programmes;
5. Medical devices;
6. Incentives for Orphan Drug development;
7. e-Health; 8. Screening practices;
9. Quality management of diagnostic laboratories;
10. Primary prevention;
11. Registries and databases;
12. Research and Development
Who benefits from the actions taken?: EU and its' citizens;

Meta information

Time horizon: 2015
Methods: desk study
Target Group: EU, Member States
Objectives: 1. Improving Recognition and Visibility on Rare Diseases ; 2. Supporting Policies on Rare Diseases in the Member States ; 3. Developing European cooperation, coordination, and regulation for rare diseases
Countries covered: N/A
ERA actors/stakeholders mentioned: EU Comission; Member States;
Geographic scope:

Entry Details

Rapporteur: Jukka Hyvönen
Rapporteur's organization: VTT
Entry Date: 28.8.2012