First drug registry in Duchenne muscular dystrophy (DMD) to assess Translarna (Ataluren) use, safety, and effectiveness in routine clinical practice

A severe, relentlessly progressive neuromuscular disorder primarily affecting young males, DMD results from mutations in the gene for dystrophin, a protein required for muscle stability. Approximately 13% of patients have DMD due to a nonsense mutation (nm). Ataluren restores dystrophin expression in patients with nmDMD and recently was the first treatment approved in Europe for this orphan genetic disorder. To fulfill a post-marketing commitment and generate data regarding long-term patient outcomes in the setting of routine clinical practice and patterns of use, an Ataluren patient registry has been established. This observational study is intended to enroll 200 patients across ∼50 care centers in Europe and other regions over ∼2 years. The study population will include patients who are receiving usual care treatment with commercial supply of Ataluren (or receiving care within an early-access program) and who provide consent. Patients will be followed for at least 5 years. Safety and efficacy data will be collected in conjunction with routine visits conducted as per usual care. Although there are no protocol-mandated procedures, it is expected that physicians and other caregivers will follow published treatment guidelines and standards of care. This study will be conducted in collaboration with TREAT-NMD and CINRG, organizations experienced in managing active DMD disease registries and natural history studies, advancing the diagnosis and management of neuromuscular diseases around the world. Enrollment of the first patient is projected to occur in 1H2015. Ataluren is the first treatment approved for DMD, based upon demonstration of positive risk/benefit in clinical trials. Establishment of this registry further advances drug development in DMD and provides a mechanism to collect important information regarding real-world, long-term safety and effectiveness of Ataluren as a treatment for this pediatric neuromuscular disorder.