News

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…

The European Medicines Agency (EMA) has validated a marketing authorization application for Puldysa (idebenone) for treating respiratory dysfunction in Duchenne muscular dystrophy (DMD) patients who do not take glucocorticoids. This means that the submission, which was made as a conditional marketing authorization (potentially granted to therapies whose immediate benefit…

It’s been 15 years since Sailormen, a Popeyes Louisiana Kitchen franchise, first partnered with the Muscular Dystrophy Association (MDA) to enhance the lives of patients. It’s keeping at it, netting $681,015 in its latest efforts. The money was raised at the 15th Annual Sailormen MDA Golf Classic and the…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Biophytis SA is collaborating with AFM-Telethon to advance an oral pediatric formulation of Sarconeos (BIO101) for treating Duchenne muscular dystrophy (DMD). The pact calls for the French muscular dystrophy organization AFM-Telethon to give €400,000 (about $452,000) to France-based Biophytis  for further preclinical study. The funds also will go…

To help make cutting-edge genetic research more accessible, and raise awareness of rare diseases such as Duchenne muscular dystrophy (DMD), YourDNA and Cure Rare Disease (CRD) are joining forces. The initiative hopes to increase awareness about the prevalence of rare disorders in the U.S. — and about treatment…