Natural history of Becker muscular dystrophy: toward trial readiness

  • 4.5 Years 2022/2026
  • 456.200€ Total Award

Becker muscular dystrophy (BMD) is a neuromuscular disorder due to a partial lack of the protein dystrophin in the skeletal muscle and the heart, characterized by a widely variable clinical picture, with severe, disabling muscle weakness and wasting in a large proportion of patients, and frequent cardiomyopathy often leading to life threatening heart failure. BMD is less studied than, and not as well characterized as Duchenne muscular dystrophy (DMD), the more severe form of dystrophinopathy due to a complete lack of dystrophin. Both diseases still lack a definitive cure, but while DMD clinical trials are now well developed and quite abundant, BMD trials are still few, and the need for effective medications in BMD is almost completely unmet. DMD trials have taught the neuromuscular community – patients, families, clinicians, scientists, industry – important lessons about the importance of well-developed outcome measures and a deep characterization of disease natural history. For instance, identifying a measure which declines linearly in a certain patient subpopulation is paramount for selecting primary outcomes for a trial, and estimating the correct population size for recruitment. Indeed, several resource-intensive phase 2 and 3 trials for DMD have risked failure because of gaps in such knowledge. As more and more molecules, deriving from both DMD programs or other sources, show promise for the cure of BMD, natural history studies in this disease are urgently needed to inform the design of clinical trials, and facilitate a correct interpretation of their results, keeping in mind that the larger clinical variability and slower progression of BMD, compared to DMD, poses even greater challenges to conducting successful trials.

Scientific Publications

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