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Brussels, 11th November 2008

Questions and Answers on the EU Approach to Tackling Rare Diseases

What are rare diseases?

Rare diseases are primarily disorders of genetic origin, but also include rare cancers, auto-immune diseases, toxic and infectious diseases and congenital malformations. They are life-threatening or chronically debilitating diseases which are of such low prevalence (fewer than 5 per 10 000 people) that special combined efforts are needed to address them so as to prevent significant morbidity, perinatal or early mortality, or a considerable reduction in an individual's quality of life or socio-economic potential. It is estimated that between 5,000 and 8,000 distinct rare diseases exist today, affecting up to 8% of the population in total; that is an estimated 36 million people in the 27 Member States of the European Union.

Why has the Commission made tackling rare diseases a health priority at EU level?

The specificities of rare diseases - limited number of patients and scarcity and fragmentation of relevant knowledge and expertise - single them out as a distinctive area of very high European added-value. The need to pool together the still limited resources can therefore best be tackled and coordinated at EU level.

Furthermore, rare diseases remain largely invisible in healthcare information systems due to lack of appropriate coding and classification systems, which in turn imposes medical and financial barriers on receiving treatment. Misdiagnosis and non-diagnosis (often for as long as five years) are the main barriers faced by patients in the EU.

Additionally, the current EU legislative framework needs to be better adapted to rare diseases, for example by making provision for the establishment of reference networks.

What has been done so far at EU level to address rare diseases?

Rare diseases were highlighted as priorities in the Community Action Programme[1] on rare diseases (1999-2003), the EU Public Health Programme 2003-2007[2], the Second Programme of Community action in the field of health[3] (2008-2013) and the White Paper[4] “Together for Health: A Strategic Approach for the EU 2008-2013”.

A substantial contribution to advancing knowledge on rare diseases has been provided for two decades through collaborative and coordination research projects supported by the successive European Community Framework Programmes for Research and Technological Development. In the current framework programme, FP7, rare diseases have been recognised as a priority for research activities.

Under normal market conditions, the pharmaceutical industry is reluctant to invest in medicinal products and medical devices for rare conditions because of the very limited market for each disease. Under the responsibility of DG Enterprise and the EMEA (the European Medicines Agency) the European Commission is implementing a policy on Orphan Drugs. The Orphan Medicinal Product Regulation[5] sets up the criteria for orphan designation in the EU and provides incentives to encourage the research, development and marketing of medicines to treat, prevent or diagnose rare diseases.

DG SANCO established the High Level Group on Health Services and Medical Care (HLG) as a means of taking forward the recommendations made by the reflection process on patient mobility. One of the Working Groups of HLG developed concepts for reference networks of centres of expertise, in particular for rare diseases, and the Commission has proposed a legal mechanism to put such networks in place through the proposed directive on the application of patient rights in cross-border healthcare.

What is the purpose of the Communication and Council Recommendation on rare diseases?

The Communication and Council Recommendation aim to provide a coordinated Community approach for ensuring effective and efficient recognition, prevention, diagnosis, treatment, care and research in the field of rare diseases in Europe. In order to achieve this, it is necessary to:

  • Improve the recognition and visibility on rare diseases by developing proper identification and coding of rare diseases, many of which currently go unrecognised leading to inappropriate treatment for individuals and lack of appropriate resources overall.
  • Support policies on rare diseases in the Member States to ensure universal access and availability of prevention methods, diagnosis, treatment and rehabilitation for people with rare diseases. The policies will help to raise awareness in the general public, the health workforce. social services, decision-makers, and media.
  • Develop European cooperation, coordination and regulation for rare diseases, in particular to ensure action in areas such as research, centres of expertise, access to information, incentives for the development of orphan drugs and screening. Cooperation between existing European programmes also needs to be improved.



[3] Decision 1350/2007/EC of the European Parliament and of the Council; point 2.2.2.

[4] COM(2007) 630 final of 23 October 2007

[5] Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products

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