Brussels, 22/11/2007 (Agence Europe) - At a conference to be held in Lisbon on 27-28 November, the European Commission is to launch a consultation on actions to be taken to improve knowledge of rare diseases and their therapeutic and social treatment. This process, which will conclude in mid-February 2008, may lead to the creation of a European agency tasked with coordinating action in this highly specific field, which is characterised by a large number of diseases, but very few sufferers per disease and per member state. Patients and their families, who often face problems with having their little-known disease identified, also meet with misunderstanding from those around them, an absence of treatment, a lack of investment in research into the diseases, some of which affect less than one person out of every ten thousand, and which cannot be taken charge of by the national health care systems. Against this backdrop, Community involvement must be particularly well targeted so that it does not ever entirely take over the responsibilities of researchers, both public and private, and of the member states in the organisation of the health care systems.
In a communication, the European Commission lists the various fields in which improvements are possible, starting with drawing up an inventory of rare diseases, their documentation and an exchange of information. Among the plans being looked into is the development of the European network for the exchange of information, based on the Orphanet database. The creation of a network of national expert centres may feed into this. As to access to drugs, the document raises the possibility of bringing in better coordination at European level of the compassionate use provided for by Community legislation, but rarely implemented by the member states. The Commission also asks how the Community public health-care programme may get involved to help with the psycho-social and educational aspects of patients, particularly children and young adults, and their parents. Lastly, the communication lists plans to carry out a feasibility study, to be completed in 2009, into the creation of a European agency for rare diseases, which could become the cornerstone of Community action in this sector, as part of the forthcoming public healthcare programme (2014-2020).
Diseases which are considered rare are those with prevalence rates lower than five per 10,000 people, which works out at roughly 246,000 people per disease in the EU. According to the current state of scientific knowledge, the number of rare diseases is estimated at between 5000 and 8000. 6% of the population of the EU, or 15 million people, are affected by rare diseases, many of which are highly debilitating. Fewer than a hundred of these diseases - the better-known ones, such as Guillain-Barré syndrome - reach the upper threshold of prevalence of 5/10,000. Most of these diseases are extremely rare, affecting just one person out of every 100,000. This is true of haemophilia, for example, or Duchenne's muscular dystrophy.
Information on the Lisbon conference can be found at: http: //http://www.rare-disease.eu/home_en.php (O.J.)