ccfshd_admin1 – The Chris Carrino Foundation for FSHD

Epicrispr Reports Early Clinical Activity and Favorable Safety Profile in First-in-Human Epigenetic Editing Study for FSHD

by ccfshd_admin1FSHD News January 12, 2026January 12, 2026No Comments

Original article appears on epicrispr.com SAN FRANCISCO–(BUSINESS WIRE)–Epicrispr, a clinical-stage company pioneering gene-modulating therapies, today reported early clinical data from its ongoing first-in-human, open-label study evaluating EPI-321, an investigational epigenetic therapy for facioscapulohumeral muscular dystrophy (FSHD). Epicrispr holds the first and only open epigenetic editing Investigational New Drug (IND) authorization in the United States, with …

DUX in a row: Exploring genetic repression across the D4Z4 repeat

by ccfshd_admin1FSHD News, News September 2, 2025September 2, 2025No Comments

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. …

Epicrispr Biotechnologies Doses First Patient in First-in-Human Clinical Trial of EPI-321 for FSHD

by ccfshd_admin1Foundation News August 17, 2025September 2, 2025No Comments

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, …

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

by ccfshd_admin1FSHD News, News July 25, 2025August 17, 2025No Comments

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 …

Avidity Shares Promising Interim Data from its FORTITUDE Trial

by ccfshd_admin1Justin's Blog July 12, 2024No Comments

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 …

FSHD treatment del-brax (formerly AOC 1020) aids muscle function

by ccfshd_admin1FSHD News, FSHD Story, News June 30, 2024August 17, 2025No Comments

by Margarida Maia, PhD | June 20, 2024 AOC 1020, an investigational treatment by Avidity Biosciences that’s now called delpacibart braxlosiran, or del-brax, helped adults with facioscapulohumeral muscular dystrophy (FSHD) grow stronger muscles and extend their arms farther than they could four months earlier. These are early data from FORTITUDE (NCT05747924), a three-part Phase 1/2 clinical trial that’s testing how safe del-brax …

Chris Carrino heads to Capitol Hill to advocate for FSHD

by ccfshd_admin1Foundation News June 5, 2024No Comments

On May 8, 2024, Chris and Laura Carrino joined with members of the FSHD Society for a trip to Capitol Hill to meet with Senators, Congressman, and staffers in an effort to advocate for FSHD. With promising clinical trials underway, there is an urgency to introduce these lawmakers to FSHD patients and build relationships that …

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

by ccfshd_admin1Justin's Blog July 8, 2023September 17, 2023No Comments

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 …

Breaking Barriers in the Sky: The Future of Air-Travel for Wheelchair Users

by ccfshd_admin1Justin's Blog June 30, 2023September 17, 2023No Comments

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 …

WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy

by ccfshd_admin1FSHD News April 12, 2023April 13, 2023No Comments

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent neuromuscular disorders. The disease is linked to copy number reduction and/or epigenetic alterations of the D4Z4 macrosatellite on chromosome 4q35 and associated with aberrant gain of expression of the transcription factor DUX4, which triggers a pro-apoptotic transcriptional program leading to muscle wasting. As today, no cure or therapeutic option is available to FSHD patients. Given its centrality in FSHD, blocking DUX4 expression with small molecule drugs is an attractive option.