Maladies rares : quelles sources d'information pour les professionnels de santé et les malades ?

Abstract

The concept of rare diseases originated in the USA in the early eighties thanks to a patients' advocacy group which wanted to see drugs developed for their very rare disease. Europe adopted a regulation to stimulate the development of orphan drugs in 1999, following active lobbying by France. In Europe a disease is considered to be rare when its prevalence is lower than 1 in 2.000. This is the threshold below which the disease is not taught to medical students and the market is considered to be too limited to be of interest to pharmaceutical companies. Information is perceived as the key issue in relation to the rarity of the disease. Responding to this need in 1997, the French Ministry of Health and the French Health and Research Institute (Inserm) established an information service ( www.orpha.net). The Orphanet concept is to offer a summary of information on each rare disease and a directory of expert services in Europe. To serve the needs of professionals facing emergency situations, a series of factsheets is being developed, in partnership with learned societies to support good practice in the field of emergency medicine for rare diseases.