[Rare diseases in professional health care]

The treatment of patients with rare diseases is a challenge for all those involved, since it frequently requires decisions on the basis of uncertainty. Uncertainty is of particular importance for the risk/benefit assessment of therapeutic interventions which "normally" imposes extensive requirements on the quality of evidence through explicit specifications. These requirements concern the assessment of potential benefit within the framework of statutory health insurance as well as the proof of efficacy and safety within the framework of pharmaceutical law. As a consequence drugs prescribed to patients with rare diseases are often applied outside approved indications, with immediate effects regarding reimbursement and drug safety. Another concern is that patients with rare diseases may be deprived of potential therapies as the requirements for clinical evidence are not fulfilled because of the rareness of the disease. The Federal Social Court takes this into consideration, but at the same time imposes strict requirements for the proof of efficacy. In contrast, the procedure of the Federal Joint Committee appears more adequate for the special requirements of rare diseases. Using some decisions of the Federal Social Court and of the Federal Court of Justice as examples, it is discussed how the uncertainty associated with the treatment of patients with rare diseases is dealt with and how this might be improved are discussed.