Rare diseases under different levels of economic analysis: current activities, challenges and perspectives

Rare diseases imply clinical and economic burden as well as a significant challenge for health systems. One relevant objective of the activities planned within the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) is to address the economic dimensions of rare diseases to identify, develop and suggest strategies to improve research and patients' access to orphan drugs (ODs) and highly specialised health technologies. This paper presents a preliminary review of the existing policies on rare diseases in the countries of the Network members. It also introduces and discusses the theme of how to perform health economic evaluations of rare diseases and of existing or new treatments for rare diseases. To obtain a preliminary overview aiming at defining the state of the art of rare diseases policies and initiatives in ERN ReCONNET countries, we collected and analysed the rare diseases national plans of all the eight countries of the ERN ReCONNET participants. The preliminary overview that has been performed showed that in all the ERN ReCONNET countries are in place national plans for rare diseases; however, heterogeneity exists in the reimbursement of ODs, direct provision by the healthcare system, involvement of patients' associations in decision making and implementation of clinical practice guidelines.