A regulatory overview about rare diseases

Rare diseases attract very little interest for drug development. To create more favourable conditions, incentives for development (scientific advice, research grants) and marketing of medicines (market exclusivity, regulatory fee reductions) are offered by several orphan legislations. These incentives have proven to be a valuable stimulus for research and development for new products for treatment, prevention and diagnosis of rare diseases. In the US almost 2000 products have been designated as orphan medicines and about 340 have received marketing authorisation. Rare diseases have also gained attention from regulators in the last years. Nowadays it is acknowledged that rare diseases deserve specific attention and individual regulatory guidance. Also, regulatory authorities have developed different mechanisms to put products on the market considering specific limitations of data availability (conditional marketing authorisation, exceptional circumstances authorisation). In the future more initiatives will have to address the need for networking scientific knowledge and research capabilities to address the difficulties to generate data in rare diseases.