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Transferring a healthy version of the Large1 gene into adult mice with severe congenital muscular dystrophy restored the function of muscles involved in movement and breathing, a study found. The use of this gene therapy translated into an extended lifespan for the mice, which had congenital muscular dystrophy —…

The U.S. Food and Drug Administration (FDA) has given the go-ahead for the first-in-human dosing of Cure Rare Disease’s (CRD) investigational genome-editing therapeutic for Duchenne muscular dystrophy (DMD). Dosing of a single patient with the treatment, dubbed CRD-TMH-001, will happen soon at the University of Massachusetts Chan Medical…

Under an agreement with the Broad Institute, Sarepta Therapeutics has acquired an exclusive license to the gene therapy vector MyoAAV in potentially treating Duchenne muscular dystrophy (DMD) and several other neuromuscular and cardiac indications. MyoAAV is a new vector for delivering genetic therapies to cells, with evidence that…

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

Sarepta Therapeutics plans to ask the U.S. Food and Drug Administration (FDA) to grant accelerated approval to the company’s experimental gene therapy SRP-9001 for people with Duchenne muscular dystrophy (DMD) who are able to walk. “We are delighted to confirm that based on the feedback we received…

Treatment with dystrophin expressing chimeric (DEC) cells was safe and led to long-term cellular and functional improvements in the heart, respiratory, and leg muscles of a mouse model of Duchenne muscular dystrophy, a study found. The findings support “future clinical application of DEC as a safer and potentially more…

A coalition of six non-profits will host a patient-focused meeting in September for six forms of limb-girdle muscular dystrophy (LGMD). The Sept. 23 online event is free, open to the public, and will focus on LGMD 2A (R1), 2C (R5), 2D (R3), 2E (R4), 2F (R6), and 2I (R9).

The first patient has been dosed in a pivotal U.S. Phase 3 study evaluating the investigational cell therapy CAP-1002 in males with advanced Duchenne muscular dystrophy (DMD). The trial, called HOPE-3 (NCT05126758), will evaluate the effect of CAP-1002 in upper limb function, among other assessments, in about…

A Phase 2 clinical trial testing Edgewise Therapeutics’ investigational oral therapy EDG-5506 is recruiting boys and men with Becker muscular dystrophy (BMD). Called CANYON (NCT05291091), the study plans to enroll up to 66 BMD patients, ages 12–50, across 14 clinical sites in the U.S., U.K., and the…

Note: This story was updated July 12, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there…