European consultation on healthcare policy for rare diseases

13 December 2007

EURORDIS, a non-governmental alliance of patient organisations and individuals active in the field of rare diseases (including more than 260 organisations in over 30 countries), which is supported by the European Commission, has released a consultation document on rare diseases, summarizing the necessary elements for an efficient pan-European policy in this area.

Rare diseases: Europe’s Challenges defines rare diseases as “life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity”, noting that many (though not all) of these conditions are genetic diseases, such as Duchenne muscular dystrophy, Von-Hippel Lindau disease and Huntington Disease. Low prevalence is assessed as affecting fewer than 5 per 10,000 persons in the European Union, with most of the estimated 5-8,000 conditions being much rarer than this. However, the report makes the point that collectively these diseases are significant, estimating that around 15 million people in the EU are currently affected or will be affected in the future by one of these rare diseases.

The benefits of research into rare diseases, including impact on the understanding of common conditions such as obesity and diabetes, are emphasized, and set against the ‘orphan’ status of most such conditions, where pharmaceutical research is low because of the very limited market for each disease. There has already been some recognition of this, with initiatives intended to drive research in this area; the EC has recently joined with the European Medicines Agency and the US Food and Drug Administration to produce a common application form to gain obtain 'orphan status' for drugs for rare diseases [News in brief, BMJ 2007;335:1174 (8 December)]. The consultation document notes that rare diseases are also orphans with respect to health policies, partly because of the way their significant contribution to morbidity and mortality is masked in healthcare information systems by the absence of appropriate classification systems. In some cases relatively common conditions such as autism or epilepsy can mask an underlying rare disease, such as Fragile X Syndrome or tuberous sclerosis, respectively.

The document calls for a global approach to prevent significant morbidity or premature mortality, where feasible, and to improve quality of life or socio-economic potential of affected individuals in member states as far as possible, by improved and equitable systems for the timely identification and treatment of rare diseases, and provision of relevant information to patients and their families. It proposes that this may be achieved by:

  • Strengthening the cooperation between EU programmes including Public Health Programmes, Framework Programmes for Research and Technological Development, and the Orphan Drugs strategy
  • Encouraging EU Member States to develop national health policies to ensure equal access and availability of prevention, diagnosis, treatment and rehabilitation for people with RD.
  • Developing and sharing common policy guidelines in Europe

and states that there “is probably no other area in public health where the collaboration between the 27 different national approaches can be as efficient and effective as RD”. Fourteen specific questions relating to these objectives are posed, with responses requested by 14 February 2008.

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