COST Actions: fostering collaborative research for rare diseases

Between 2013 and 2017, we participated in the COST Action BM1207, which aimed to accelerate the clinical development of antisense-mediated splicing modulation for rare diseases, with a first focus on Duchenne muscular dystrophy. Through its four working groups (biochemical outcome measures, regulatory models, networking meetings, and stakeholder communication), the Action was instrumental in generating standard protocols for dystrophin quantification as a biochemical outcome measure to be used in clinical trials,3 and for training personnel in how to perform this analysis. The Action established interactions with industry and with regulatory bodies, such as the European Medicine Agency (EMA) for drafting the corresponding guidelines,4 as well as with patients, organising training schools for early stage researchers to present their research work in a clear and understandable way to lay people.