Fshd / opmd / myotonic dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is caused by loss of repression at the D4Z4 locus resulting in aberrant expression of the homeobox transcription factor DUX4. DUX4 expression activates its downstream transcriptional program resulting in cell death, skeletal muscle loss and progressive motor disability. Fulcrum Therapeutics is developing losmapimod to treat FSHD at its root cause. Losmapimod is a potent and highly selective small molecule inhibitor of p38 α/β that in preclinical studies reduced DUX4 activity and its downstream transcriptional program in FSHD myotubes resulting in the prevention of cell death without impacting myogenesis.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research