Workshop report Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

In June 2014 TREAT-NMD organised a workshop at TheWellcome Trust head office in London to discuss issues suchas natural history, outcome measures, efficacy measurements,animal models and clinical study design as part of thecoordinated response to the public consultation by theEuropean Medicines Agency (EMA) on the draft guidelinesfor clinical investigation of medicinal products in Duchenneand Becker muscular dystrophy (DMD/BMD). The workshopattracted over 60 participants from 9 countries representingpatients, academics, and industry. It was also attended byexperts involved with the production of the draft EMAguidelines.The discovery of the genetic cause of Duchenne musculardystrophy (DMD) almost 30 years ago raised hope that atreatment for one of the most common and devastating geneticdiseasescouldsoonbedeveloped.Althoughtodatenodrughasbeen licenced for DMD, it is nevertheless promising thatmultiple therapeutic approaches have made it into the clinicaltrial phase for DMD and other rare inherited neuromusculardiseases. Over the past years international collaborationsinvolving patient organisations, academics and industry havecontributed to the development of patient registries, standardsof care, clinical outcome measures, biomarkers and animprovedunderstandingofthepathogenesisandnaturalhistoryof DMD under the auspices of the TREAT-NMD network. Inresponse to these advances regulatory agencies are in theprocess of developing guidelines for the conduct of clinicaltrials in DMD and its milder allelic form Becker musculardystrophy (BMD). The publication of a draft guideline on theclinical investigation of medicinal products for the treatment ofDMD and BMD by the European Medicines Agency (EMA)prompted theTREAT-NMD network to host a workshop jointlywith COST Action BM1207 to discuss the guideline amongvarious stakeholder representatives and come to a consolidatedresponse to the public consultation.This report summarises themain topics of the workshop discussions.