In this video, Michelle Mellion, MD, medical director at Fulcrum Therapeutics, discusses the Cambridge biotech’s approach to treating facioscapulohumeral muscular dystrophy. She describes the company’s scientific research to develop “FSHD in a dish” models to screen and identify candidate drugs that can suppress the expression of DUX4, the gene thought to be the trigger for FSHD. She also reviews studies sponsored by Fulcrum to develop sensitive methods to detect DUX4 expression in patients’ muscles, track the disease process in muscles through magnetic resonance imaging, and to measure function. Finally, she discusses results from Fulcrum’s phase 1 clinical trial and touches on the ongoing phase 2 clinical trial of losmapimod, the first DUX4-repressing drug to go into a clinical trial for individuals with facioscapulohumeral muscular dystrophy.
Recorded at the FSHD Society’s Greater Philadelphia chapter meeting in October, 2019. For the best listening experience, please turn the volume up to maximum and listen through earphones.