Policy view Cooperation among stakeholders to overcome challenges in orphan medicine development : the example of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a rare, progressive muscle-wasting disease leading to severe disability and premature death. Treatment is currently symptomatic, but multiple experimental therapies are in development. Implemented care standards, validated outcome measures correlating with clinical benefit, and comprehensive information about the natural history of the disease are essential for the regulatory approval of any therapy. However, for DMD and other rare diseases, these are not always in place when potential therapies enter the clinical trial phase. A cooperative effort of DMD stakeholders, including representatives from patient groups, academia, industry and regulatory agencies aimed at addressing this by identifying strategies to overcome challenges, developing the tools required and collecting relevant data. This review illustrates how an open and constructive dialogue among European stakeholders has positively influenced therapy development for DMD, and how this could serve as a paradigm for rare disease therapies’ development in general.