2013 Report on the state of the art of rare disease activities in Europe

The European Union Committee of Experts on Rare Diseases (EUCERD) has recently published a report on rare diseases in the EU aiming at providing an overview of rare disease in Europe.

Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence (not more than 5 people affected per 10 000 people in the European Union, as defined by the European Regulation on Orphan Medicinal product 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.

The definition of a rare disease as having a prevalence of not more than 5 in 10 000 first appeared in EU legislation in Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. The Community action programme on rare diseases including genetic diseases for the period 1 January 1999 to 31 December 2003 then applied this definition to the field of public health.

European cooperation aims to bring together the scarce resources for rare diseases fragmented across EU Member States. European action aims to help patients and professionals collaborate across Member States so as to share and coordinate expertise and information. This will be achieved through (for example) networks linking centres of expertise in different countries, and by making use of new information and communication technologies ("E-Health"). The European Commission aims to develop successful existing actions, such as the previous health programme on rare diseases, the Research and Technological Development Framework Programmes, and the specific regulatory framework already in place to provide incentives for the development of 'orphan' medicinal products for these conditions.

This EUCERD report provides an informative and descriptive overview of rare disease activities at the European Union (EU) and Member State (MS) level in the field of rare diseases and orphan medicinal products up to the end of 2012. A range of stakeholders in each Member State/country have been consulted during the elaboration of the report, which has been validated as an accurate representation of activities at national level, to the best of their knowledge, by the Member State/country representatives of the European Union Committee of Experts on Rare Diseases.

The report is split into six parts:

Part I: Overview of rare disease activities in Europe

Part II: Key developments in the field of rare diseases in 2012

Part III: European Commission activities in the field of rare diseases

Part IV: European Medicines Agency activities and other European activities in the field of rare diseases

Part V: Activities in EU Member States and other European countries in the field of rare diseases

Part VI: Activities at National level in each EU Member State and other European countries in the field of rare diseases.