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.
Arlene cohen says
January 15, 2020 at 9:32 pmWas wondering if there is any ability to get compassionate use of the drug
Ludwig Lim says
January 16, 2020 at 11:07 amI’d like to get more information. If you need any blood samples, medical records or anything let me know. I have fsh and we did genes of my parents and they said both my parents had it. But didn’t show any signs. I’m 40 years old male and on ventilator. I’d like to do my part in helping find a cure and be around longer for my 12 years old son because I’m single dad.
jkinoshita says
January 20, 2020 at 1:18 pmHi Ludwig, if you are near an FSHD Clinical Trial Research Network site, we encourage you to contact them and let them know about your interest in volunteering for research. Are you certain both of your parents also have the gene for FSHD? That would be highly unusual and of great interest to researchers.