A new technique that compares RNA production between an individual’s two gene copies may help find genetic alterations that lead to muscular dystrophy and other rare diseases, a study suggests. The research, “Genetic regulatory variation in populations informs transcriptome analysis in rare disease,” appeared in the…
Long-term treatment with Puldysa (idebenone) provides a stable reduction of lung function decline by approximately 50% in people with Duchenne muscular dystrophy (DMD), a study shows. The research, “Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy,” was published in…
NS Pharma will share future plans for viltolarsen, its investigational exon-skipping therapy for Duchenne muscular dystrophy (DMD) in a webinar hosted by Parent Project Muscular Dystrophy (PPMD) on Wednesday. The company will discuss viltolarsen’s mechanism of action and its current regulatory status during the one-hour webinar,…
Parent Project Muscular Dystrophy (PPMD) announced it is updating its global registry with a new, user-friendly app intended to empower people with Duchenne muscular dystrophy and their families to become more informed and engaged. Created by Thread, a company that specializes in remote and decentralized patient…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
Owing to a serious adverse event in a patient, the U.S. Food and Drug Administration (FDA) has put another clinical hold on a Phase 1/2 clinical trial of SGT-001, an investigational gene therapy for Duchenne muscular dystrophy (DMD). Solid Biosciences, the company developing SGT-001, is working…
The clinical program evaluating the safety, tolerability, and efficacy of RG6206 in boys with Duchenne muscular dystrophy (DMD) has been discontinued, according to a letter to the DMD community by Roche and Genentech. “We recognize this news is deeply disappointing for the Duchenne community, especially in…
The Muscular Dystrophy Association’s (MDA) efforts to support and advocate for a wide range of neuromuscular diseases are felt by patient communities nationwide. While the MDA’s scope is indeed a national one, the organization reaches patients and families in a variety of different ways, including local events such as the…
Treatment with a cell therapy candidate called dystrophin expressing chimeras (DECs) increased dystrophin levels in heart muscle and improved cardiac function in mice with Duchenne muscular dystrophy (DMD), a study has found. This cell therapy, by Dystrogen Therapeutics, will be tested in a clinical trial involving DMD patients,…
The investigational oral treatment losmapimod is able to suppress the toxic activity of the DUX4 gene, the root cause of muscle degeneration in facioscapulohumeral muscular dystrophy (FSHD), new research in patient-derived cells and in a mouse model suggests. This supports a way forward in developing the first…
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