Multi-stakeholder Engagement for DMD Evidence Development

Duchenne muscular dystrophy (DMD) is a rare genetic disease characterized primarily by progressive loss of muscle. It is caused by mutations in the gene for the protein dystrophin, which functions to keep muscle cells intact. Because patients with DMD have little to no functional dystrophin, their muscle cells are fragile and easily damaged. Symptoms of muscle weakness usually appear around age 3 to 5 years, almost always in boys, and, by the early teens, cardiac and respiratory muscles are often affected. In addition to having muscle degeneration, patients with DMD may also experience developmental and cognitive delays. Patients with DMD have greatly decreased life expectancy because of the muscle degeneration leading to respiratory and cardiac failure, although improvements in care are helping affected boys live into their twenties and sometimes thirties more frequently.

In July of 2018, CMTP held a multi-stakeholder meeting to discuss approaches to generating post-approval evidence that would address the information needs of decision makers such as patients, clinicians, and payers, using a case study of a recently-approved treatment for DMD. Stakeholders recognized that there is no single clinical outcome that is ideal for evaluating all stages of the disease and payers emphasized the need for the DMD community to agree on the most important outcomes in order to make informed coverage decisions. To begin moving towards agreement on the most important outcomes for DMD clinical decision making, it is necessary for stakeholders to have a common shared understanding of the stages of the disease as well as relevant patient-level factors – including age, motor ability, mutation type, and steroid treatment status – and how they are being considered in current research activities. To do this, CMTP is partnering with the Parent Project Muscular Dystrophy to hold a meeting to provide a forum for multiple stakeholders to engage in open dialogue about DMD treatments and the challenges of developing evidence for clinical use.