The European Commission has this week adopted a Communication and a proposal for a Council Recommendation on rare diseases, which set out an overall strategy to support European Union (EU) member states in diagnosing, treating and caring for the 36 million EU citizens with rare diseases.

“We want to bring patients with rare diseases out of the shadows,” said European Commissioner for Health, Androulla Vassiliou, announcing the initiatives. “Expertise on rare diseases is fragmented across the Union - even the very existence of some of these diseases is not fully recognised. That means that too many patients spend years of uncertainty before their conditions are correctly diagnosed and treated. This is an area where the added value of working together at European level is clear and concrete, and can make the difference between marginalisation and proper treatment for millions of people across Europe,” she added.

There are estimated to be between 5,000 and 8,000 rare diseases - conditions that affect fewer than five in every 10,000 people and they are predominantly genetic in origin. However, they also include rare cancers, autoimmune diseases and congenital malformations.

The Commission is proposing a strategy for action in three main areas: - improving the recognition and visibility of rare diseases; - supporting national plans for such conditions in EU member states; and - strengthening cooperation and coordination for rare diseases at European level.

This cooperation will help to bring together the scarce resources for rare diseases that are currently fragmented across individual countries in the EU through, for example, networks linking centres of expertise in different countries, and by making use of new information and communication technologies. The Commission says it will build on 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 additional incentives for the development of orphan drugs for these conditions.

Nicolas Sarkozy, President of France, the current holder of the EU presidency, has described the Commission proposals as a public health priority, and the new strategy will be presented at the EU Conference on National Plans for Rare Diseases, taking place in Paris on November 18.

- Earlier this month, the European Medicines Agency (EMEA) reported that a total of 569 medicines have now been awarded orphan designation status in the EU, based on the recommendations of the EMEA’s Committee for Orphan Medicinal Products (COMP). Of these, 50 have now been successful in obtaining a positive EMEA opinion on marketing authorization, and the Agency says that “many more positive opinions [are] expected over the coming years.”