Action in the field of rare diseases - Main contents

EN

Official Journal of the European Union

C 151/7

Rare diseases are a threat to the health of EU citizens insofar as they are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Despite their rarity, there are so many different types of rare diseases that millions of people are affected.

The principles and overarching values of universality, access to good quality care, equity and solidarity, as endorsed in the Council conclusions on common values and principles in EU health systems of 2 June 2006, are of paramount importance for patients with rare diseases.

The Community action programme on rare diseases, including genetic diseases, was adopted for the period 1 January 1999 to 31 December 2003 (3). This programme defined the prevalence for a rare disease as affecting no more than 5 per 10 000 persons in the EU. A more refined definition based on updated scientific review, taking into account both prevalence and incidence, will be developed using the Second Community Health Programme (4) resources.

Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products (5) provides that a medicinal product shall be designated as an ‘orphan medicinal product’ when intended for the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition affecting not more than 5 in 10 000 persons in the Community when the application is made.

It is estimated that between 5 000 and 8 000 distinct rare diseases exist today, affecting between 6 % and 8 % of the population in the course of their lives. In other words, although rare diseases are characterised by low prevalence for each of them, the total number of people affected by rare diseases in the EU is between 27 and 36 million. Most of them suffer from less frequently occurring diseases affecting one in 100 000 people or less. These patients are particularly isolated and vulnerable.

Because of their low prevalence, their specificity and the high total number of people affected, rare diseases call for a global approach based on special and combined efforts to prevent significant morbidity or avoidable premature mortality, and to improve the quality of life and socioeconomic potential of affected persons.

Rare diseases were one of the priorities of the Community's sixth framework programme for research and development (6) and continue to be a priority for action in its seventh framework programme for research and development (7), as developing new diagnostics and treatments for rare disorders, as well as performing epidemiological research on those disorders, require multi-country approaches in order to increase the number of patients for each study.

The Commission, in its White Paper ‘Together for Health: A Strategic Approach for the EU 2008-2013’ of 23 October 2007, which develops the EU Health Strategy, identified rare diseases as a priority for action.

In order to improve the coordination and coherence of national, regional and local initiatives addressing rare diseases and cooperation between research centres, relevant national actions in the field of rare diseases could be...