News

Four boys with Duchenne muscular dystrophy (DMD) show improved motor function and walking ability three years after being given the experimental gene therapy SRP-9001 in a Phase 1 clinical trial, new data reveal. The findings were presented in a poster, titled “Phase 1/2A Trial of Delandistrogene…

Boys with Duchenne muscular dystrophy (DMD) treated with the experimental gene therapy SGT-001 in the IGNITE DMD clinical trial continue to show improvements in motor and lung function after two years, according to new data presented at this year’s Muscular Dystrophy Association (MDA) Annual Meeting. “What we see…

Treatment with PF-06939926, an experimental gene therapy for Duchenne muscular dystrophy (DMD), was generally well-tolerated among ambulatory patients — boys able to walk — in a Phase 1B clinical trial. Data also hint at the efficacy of the gene therapy, being developed by Pfizer, with researchers noting that…

The investigational gene therapy SRP-9003 was well tolerated overall and improved measures of physical functioning for up to three years among children with limb-girdle muscular dystrophy type 2E (LGMD2E) in a small clinical trial. “The observed durable treatment effect provides proof-of-concept, and supports our further clinical assessment of…

The corticosteroid Emflaza outperforms prednisone at slowing disease progression in people with Duchenne muscular dystrophy (DMD), according to new research presented at the Muscular Dystrophy Association (MDA) 2022 Annual Meeting being held this week in Nashville, Tennessee. The research was funded by PTC Therapeutics, which markets Emflaza. Corticosteroids…

Treatment with BBP-418 improved walking ability among people with limb-girdle muscular dystrophy type 2i (LGMD2i) in a Phase 2 clinical trial, early data show. “To date, people with LGMD2i have no approved disease-modifying treatment options. Many of these patients see their quality of life deteriorate rapidly and lose their…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Fulcrum Therapeutics plans to launch a Phase 3 trial of losmapimod, a potential oral treatment for facioscapulohumeral muscular dystrophy (FSHD), by June. The announcement of the trial, called REACH, follows clinically relevant benefits seen in the Phase 2b ReDUX4 trial (NCT04003974) and consultations with key regulators, including…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

Santhera Pharmaceuticals has entered into an agreement with SEAL Therapeutics, a spin-off of the Biozentrum of the University of Basel, that is expected to further develop a potential gene therapy for LAMA2-deficient congenital muscular dystrophy (LAMA2 MD). The new company’s gene therapy technology builds on previous research…