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Rare diseases: Europe’s challenges

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The Commission proposes a strategic approach to improving the recognition of rare diseases and patient access to suitable treatment. It supports cooperation between the European Union (EU) Member States and the development of a network of experts made up of health professionals.

SUMMARY

Rare diseases, 80% being genetic in origin, are defined as those diseases which affect not more than 5 per 10 000 persons in Europe. The limited number of patients accounts for the current low level of medical knowledge and expertise, even though these diseases can lead to the death or disability of the people affected.

This communication presents a comprehensive Community strategy aimed at supporting the recognition, prevention, management and treatment of rare diseases. The Commission encourages Member States to share their knowledge and resources in this field. The Commission will be assisted by the European Union Advisory Committee on Rare Diseases (EUACRD).

Identification and visibility

The Commission is contributing to the development of the International Classification of Diseases (ICD) developed by the World Health Organisation (WHO) and to the classification and codification of rare diseases in the new version of this classification. The Commission also supports the development of an evolving European database aimed at professionals and patients.

Information networks and European Reference Networks for rare diseases are essential means for exchanging best practice and epidemiological expertise.

Screening, diagnosis and prevention

Member States should be able to use comparable data with regard to the screening and primary prevention of rare diseases. Early diagnosis of diseases can be made using biological tests. The design and validation of these tests can be facilitated through the establishment of European reference networks of expert diagnostic laboratories.

Access to care

Member States are undertaking concrete measures to ensure the quality of and universal access to care, in particular by establishing centres of expertise at national and regional levels. Their activity could be extended to providing social services in order to improve the quality of life of patients.

Access to medication

National authorities should proceed with a joint scientific assessment of orphan medicinal products. Member States should adapt their pricing and reimbursement systems on the basis of this assessment.

The Commission requests that the European Medicines Agency (EMA) encourage a common approach to improving access to compassionate use programmes. These programmes allow the provision of new medicines before they have been approved and/or reimbursed.

Regulations applicable to medical devices should be adapted to the market for orphan medicinal products. The Commission should also provide for incentive measures to encourage pharmaceutical companies to develop new treatments.

e-Health

Information and Communication Technologies (ICTs) contribute to facilitating the exchange of scientific data. The telemedicine systems and services can enable professionals to share their expertise and to gain specialist knowledge.

Scientific research is supported by the 7th Framework Programme, which funds the development of computer assisted modelling, in particular, with the aim of increasing knowledge of the physiological and pathological processes of rare diseases.

RELATED ACTS

Proposal for a Council recommendation of 11 November 2008 on a European action in the field of rare diseases[COM(2008) 726 final – Not published in the Official Journal].

This Proposal is based on the conclusions of the communication of 11 November 2008 which promotes a European strategic approach to rare diseases. In this context, the Council invites Member States to:

  • establish strategies and national plans before 2013 in order to ensure universal access to and the high quality of care;
  • adopt a European definition of rare diseases so that they can be referenced and coded more easily in care and reimbursement systems;
  • identify research priorities and ongoing projects, with particular regard to basic, clinical and translational research and enable patients to benefit from new therapeutic advances;
  • encourage the development of national and regional centres of expertise, cross-border care and expert networks;
  • adopt common methods in terms of screening, treatment and monitoring therapeutic techniques;
  • support the activities of parent associations;
  • ensure the viability of research infrastructures at national and European levels.

The Commission is invited to inform the Council on the progress of actions undertaken by Member States as part of the comprehensive strategy on rare diseases.

Last updated: 13.02.2009

See also

For further information, please visit the following websites:

- European Commission Directorate-General for Health and Consumer Protection

- The Orphanet database.

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