Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying genetics and poor mechanistic understanding has caused a bottleneck in therapeutic development. Until the discovery of DUX4 and its causal role in FSHD, most trials were untargeted with limited results. Emerging approaches can learn from these early trials to increase their chance of success. Here, we explore the evolution of FSHD clinical trials from nonspecific anabolic or anti-inflammatory/oxidant strategies to cutting-edge molecular therapies targeting DUX4, and we discuss the importance of clinical outcome measures. With combined advances across multiple facets of FSHD research, the field is now poised to accelerate the process of therapeutic discovery and testing.

Automated summary

Facioscapulohumeral muscular dystrophy (FSHD) is a common type of muscular dystrophy, with limited therapeutic development due to complex genetics and poor mechanistic understanding; however, targeting DUX4 has shown promise in advancing clinical trials towards molecular therapies. The field is now poised to accelerate therapeutic discovery and testing with combined advances in FSHD research.