Background Paper on the Legislative Framework for Orphan Medicinal Products


“Patients with rare diseases are the orphans of the healthcare system. Their disease often remains undiagnosed and there are no therapy options or research. This means that they have no grounds for hope.” Eurordis (2005). European Conference on Rare Diseases. Luxembourg 2005

The Biotechnology Industry Organisation (BIO Deutschland), the trade association of the German biotechnology sector, aims to provide information in this background paper on the legal status and ramifications of European and German regulations on medicinal products for rare diseases (also known as orphan medicinal products or orphan drugs).

The field of orphan medicinal products involves particular challenges for doctors and pharmaceutical manufacturers. Rare diseases form a highly heterogeneous group of mainly complex symptoms, which are genetic in 80 per cent of the cases and mostly severe and chronic. Patients with rare diseases need comprehensive and specialised care. In adopting Regulation (EC) No 141/2000 (abbreviated as 141/2000/EC) on orphan medicinal products, the EU aimed to specifically promote research and development on such drugs. Over four million people in Germany suffer from a rare disease. A disease is defined as rare if it affects not more than five in 10,000 persons. These diseases are usually chronic, progressive, degenerative and often life-threatening. As a result, they are often of a highly impairing nature and have a severe impact on the quality of life of patients and those close to them. Small and medium-sized biotechnology enterprises in particular are highly active in the field of rare diseases. 

Of the some 30,000 known diseases, up to 8,000 are classified as rare. Thanks to the significant increase in drug developments for these symptoms, there is hope for the some four million people affected by a rare disease in Germany and for their relatives. This means that the above quotation fortunately no longer applies to all patients with a rare disease. Since the introduction of orphan-drug status under Regulation 141/2000/EC, 58 orphan medicinal products have been granted marketing authorisation. German biotechnology companies are enjoying similar successful results with further niche medicines that do not come under Regulation 141/2000/EC, but are also produced for a small market and have a very low impact on the drug budget. This research by biotechnology companies is of immense importance, as it provides new hope that therapy options will finally become available for an increasing number of rare diseases. Now we must ensure that the progress that has resulted from the introduction of orphan-drug status and state funding is not negated by greater difficulties in reimbursement for orphan medicinal products and the establishment of lower prices. The same applies to the currently planned German and European initiatives on improving the situation of people with rare diseases.

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