Treatment with Exondys 51 (eteplirsen) significantly slows respiratory decline in boys with Duchenne muscular dystrophy (DMD), including those with more advanced disease, compared to standard glucocorticoid therapy, an analysis of clinical trials shows. The study “Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy”…
For more than 20 years, Robert (Bob) Bennett was a steadfast leader and supporter of the Muscular Dystrophy Association (MDA). To honor his legacy, the Robert M. & Marjie A. Bennett Foundation has donated $500,000 to the Los Angeles-area MDA Summer Camp. Located in Orange County, Calif., the…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
Early trial data supports the potential of FibroGen‘s investigative treatment pamrevlumab to slow the decline in, or even improve, lung and heart function in non-ambulatory youth with Duchenne muscular dystrophy (DMD), as well as to preserve their upper limb performance and strength. These findings were highlighted…
The Muscular Dystrophy Association (MDA) has awarded Locana $550,000 through its MDA Venture Philanthropy (MVP) program to help advance the biotech company’s therapy platform for myotonic dystrophy (DM). Specifically, the grant to the San Diego, California-based gene therapy company is aimed at furthering the development of its RNA-targeting…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Increasing the amount of a protein called sarcospan may help to protect against heart failure in children with Duchenne muscular dystrophy (DMD), a study in mice suggests. The study, “Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy,” was published in the journal JCI Insight. Despite significant advances…
Enrollment is progressing quickly in Catabasis Pharmaceuticals‘ pivotal Phase 3 PolarisDMD trial, testing its investigational small molecule therapy edasalonexent for Duchenne muscular dystrophy (DMD) — with sites in some countries already full, the company said. Screening is ongoing in the U.S., Canada, Australia, the U.K.,…
Catabasis Pharmaceuticals announced new preclinical data showing that, in a mouse model of Duchenne muscular dystrophy (DMD), the small molecule edasalonexent preserved bone health, whereas the corticosteroid prednisolone caused bone loss. An ongoing double-blind and randomized Phase 3 trial (NCT03703882), called PolarisDMD, is evaluating…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
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