The last day of February is Rare Disease Day, a day of action intended to raise awareness of rare diseases around the world. In the European Union (EU), a disease is considered rare if it does not affect more than five in 10,000 people. About four million people in Germany alone live with a rare disease according to estimates. A large proportion of rare diseases, also known as orphan diseases, are of genetic origin. Since many of these diseases are complex and most are chronic and associated with health limitations, there is a great need for innovative therapies. The Paul-Ehrlich-Institut supports the development and authorisation of biomedicines for orphan diseases with its regulatory and scientific expertise.
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Orphan diseases include diseases such as haemophilia A and B, spinal muscular atrophy, and all types of leukaemia. Medicinal products developed for the treatment of orphan diseases are authorised in centralised procedures via the European Medicines Agency (EMA). Finding an effective treatment for a rare disease can be very difficult. The EU therefore provides incentives for pharmaceutical companies to research and develop medicinal products that would not otherwise be developed for orphan disease patients. The incentives include reductions in regulatory fees or market exclusivity after marketing authorisation. If a company has market exclusivity, other similar medicinal products for the same indication cannot be placed on the market at the same time. In order for a company to benefit from the EU incentives, the Committee for Orphan Medicinal Products (COMP) at the EMA examines applications to determine if a medicinal product can be designated as an orphan medicinal product. The Paul-Ehrlich-Institut participates in examinations of applications involving biomedicines. This group includes advanced therapy medicinal products (ATMPs) such as gene and cell therapies. The Paul-Ehrlich-Institut provides regulatory and scientific support to the development of biomedicines along their entire life cycle, i.e. from discovery to authorisation and beyond. In doing so, the Institute actively supports medicinal product development.
Updated: 28.02.2025
