By J Waters In the late 19th century, two French neurologists described a new form of muscular dystrophy which they named for the specific muscles it affects—the facial (facio-), shoulder (-scapulo-), and upper arm muscles (-humeral). Facioscapulohumeral dystrophy, or FSHD, causes progressive muscle weakness and wasting in these areas, affecting about 1 in every 10,000 individuals. …

Read more “DUX in a row: Exploring genetic repression across the D4Z4 repeat”

  SOUTH SAN FRANCISCO, Calif.–(BUSINESS WIRE)–Epicrispr Biotechnologies, a clinical-stage company pioneering gene-modulating therapies, today announced that the first patient has been dosed in its global first-in-human clinical trial of EPI-321, an investigational, one-time epigenetic editing therapy for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a progressive genetic disease that affects approximately 1 in 8,000 individuals worldwide, …

Read more “Epicrispr Biotechnologies Doses First Patient in First-in-Human Clinical Trial of EPI-321 for FSHD”

  In a number of company updates, Avidity Biosciences announced the FDA’s openness for an accelerated approval for its investigational agent delpacibart braxlosiran (del-brax) as a potential treatment for facioscapulohumeral muscular dystrophy (FSHD). The company has also initiated its phase 3 FORWARD study, a confirmatory, large-scale trial further testing the agent’s efficacy and safety, that …

Read more “FDA Accelerated Approval Open for FSHD Agent Del-Brax, With Newly Initiated Phase 3 Study to Confirm Efficacy”

By Justin Cohen, PhD Avidity Biosciences recently announced exciting interim results from their randomized, double-blind, placebo-controlled Phase 1/2 FORTITUDE trial in facioscapulohumeral muscular dystrophy (FSHD). Termed delpacibart braxlosiran or del-brax for short, this first-in-class therapy is a muscle targeting antibody bound to a payload that targets DUX4, the toxic protein that causes FSHD. Once attached …

Read more “Avidity Shares Promising Interim Data from its FORTITUDE Trial”

By Justin Cohen, PhD Avidity Biosciences recently announced exciting interim results from their randomized, double-blind, placebo-controlled Phase 1/2 FORTITUDE trial in facioscapulohumeral muscular dystrophy (FSHD). Termed delpacibart braxlosiran or del-brax for short, this first-in-class therapy is a muscle targeting antibody bound to a payload that targets DUX4, the toxic protein that causes FSHD. Once attached …

Read more “Avidity Shares Promising Interim Data from its FORTITUDE Trial”

By Justin Cohen, PhD Kate Therapeutics, a San Diego base biotechnology company has announced funding to advance their muscle and cardiovascular disease portfolio. Among the first diseases to be explored is Facioscapulohumeral muscular dystrophy (FSHD), exciting news for patients like myself and their families who are impacted from this affliction. Included among these ranks is …

Read more “Hope for the Future of Muscular Dystrophy Treatment: Kate Therapeutics Harnesses their myoAAV Technology for FSHD”

By Justin Cohen, PhD Air-travel for wheelchair users come with a unique set of challenges that cause many to forgo the plane altogether. This could all change after the recent Aircraft Interiors Expo in Hamburg, Germany, which unveiled a new airplane seat prototype that could revolutionize air-travel for wheelchair users. In a collaboration with the …

Read more “Breaking Barriers in the Sky: The Future of Air-Travel for Wheelchair Users”

Justin Cohen is a remarkable young researcher, living with FSHD, and efforting to find a cure for the disease. The Carrino Foundation is proud to make his work possible. Here is Justin’s story, in his own words.