News

When Shawn Welch was diagnosed in 1979 with facioscapulohumeral muscular dystrophy (FSHD), his doctor at the University of Connecticut John Dempsey Hospital told him he’d probably die before his 30th birthday. “I thought the end was going to come,” Welch…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

A small molecule, trichostatin A (TSA), increased the levels of a dystrophin-related protein known as utrophin, and improved the structure and function of muscles in a mouse model of Duchenne muscular dystrophy (DMD), a study found. The study, “High-throughput identification of post-transcriptional utrophin up-regulators for Duchenne muscle…

Continuing its support, CITGO marketer Graham Enterprise (GEI) raised $123,000 last year for the Muscular Dystrophy Association (MDA). With support from its network of retailers and marketers, including Illinois-based Graham Enterprise, CITGO is the MDA’s largest corporate sponsor. To date, the petroleum company has collected more than $250…

Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar.  William Whitman…

Fulcrum Therapeutics announced that its Phase 2b trial assessing the safety and efficacy of losmapimod, an investigational oral treatment for facioscapulohumeral muscular dystrophy (FSHD), is fully enrolled. The trial (NCT04003974), called ReDUX4, started recruiting patients at clinical sites in the U.S., Canada, and Europe last year. It is…

Researchers have improved a gene editing technique that may more efficiently correct DMD gene mutations in people with Duchenne muscular dystrophy (DMD), restore the normal function of the dystrophin protein, and improve muscle function, a study in…

Translarna (ataluren) significantly improves physical fitness in people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), a study examining multiple endpoints across two trials shows. The study used a statistical strategy for analyzing multiple trial endpoints together, a tactic that could improve the interpretation…

Treatment with adenylosuccinic acid (ASA) improves muscle integrity and reduces cellular damage in a mouse model of Duchenne muscular dystrophy (DMD), a study has found, suggesting it could be a viable therapy for patients with the condition. In these animals, ASA increased the amount of mitochondria (the energy…

Four grassroots organizations are collaboratively funding a $200,000 grant to a University of Missouri School of Medicine researcher to develop next-generation gene therapy vectors for Duchenne muscular dystrophy (DMD). The foundations Ryan’s Quest, Michael’s Cause, Pietro’s Fight, and Powers Promise are awarding the…