A Collaborative Approach to encourage research and promote new treatments for orphan diseases

Abstract

The last two decades has seen a significant increase in the development of medicinal products to treat rare “orphan” diseases, largely due to the EU Orphan Medicinal Product Regulation (2000), but also because of the consistent advocacy by patient groups prior to this regulation. These groups from across Europe joined forces under the umbrella of EURORDIS, to secure the implementation of the regulation and ensure that there was patient representation on the committee at EMA (the European Medicines Agency) which would be responsible for assessing and giving opinions on applications, namely COMP (The Committee for Orphan Medicinal Products). As its Vice-Chair I have the privilege to ensure the patient perspective is always considered during these assessments. I will discuss how COMP works as part of the EMA Human Medicines Research and Development Support Division to promote the development of research into medicinal products for the treatment of rare diseases and how this is also encouraged by EU funding through Horizon 2020. Since rare diseases are a global issue, I describe how the EU is also collaborating with IRDiRC (the International Rare Disease Research Consortium) to provide the critical mass in terms of patient population and skills needed to meet the urgent need for new therapies as quickly as possible.