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.
['Cohen|Justin|J|', 'DeSimone|Alec|A|', 'Lek|Monkol|M|', 'Lek|Angela|A|']
D000818:Animals D015415:Biomarkers D000068456:Clinical Studies as Topic D003131:Combined Modality Therapy D019468:Disease Management D004198:Disease Susceptibility D000076722:Drug Development D004353:Drug Evaluation, Preclinical D020022:Genetic Predisposition to Disease D018398:Homeodomain Proteins D006801:Humans D058990:Molecular Targeted Therapy D020391:Muscular Dystrophy, Facioscapulohumeral D010084:Oxidation-Reduction D016896:Treatment Outcome
facioscapulohumeral muscular dystrophy DUX4 clinical trials anabolic therapies clinical outcome measures