News

With the recent approval of Amondys 45 (casimersen) by Sarepta Therapeutics, there are now four exon-skipping therapies available in the U.S. for eligible patients with Duchenne muscular dystrophy (DMD). The others are Exondys 51 (eteplirsen) and Vyondys 53 (golodirsen), also by Sarepta, and Nippon Shinyaku’s…

The U.S. Food and Drug Administration (FDA) has conditionally approved Amondys 45 — formerly known as casimersen — by Sarepta Therapeutics as the first treatment for people with Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping. Accelerated, or conditional, approval is granted to a medication whose immediate availability fulfills an unmet medical…

Treatment with givinostat alongside corticosteroids continues to delay disease progression — and maintain patients’ ability to walk — in boys with Duchenne muscular dystrophy (DMD), new data from a long-term Phase 2/3 clinical study show. The new data, from an ongoing seven-year study, was presented by Paolo Bettica,…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The Muscular Dystrophy Association (MDA) has launched its 39th annual #MDAShamrocks campaign — the largest St. Patrick’s fundraiser in the U.S. — aiming to raise money and awareness about muscular dystrophy and related neuromuscular disorders. During February and March, thousands of retailers across the country will invite their…

By deleting the Mss51 gene, scientists were able to reduce fatigue, increase endurance, and ease mitochondrial impairment in a mouse model of Duchenne muscular dystrophy (DMD). Mss51 is a gene that provides instructions to make a skeletal muscle protein specifically found in mitochondria, the small cell compartments responsible for…

Parent Project Muscular Dystrophy (PPMD) has received an award of more than $100,000 from the Duchenne Research Fund to address neurobehavioral care in people with Duchenne muscular dystrophy (DMD). “We are pleased that the Duchenne Research Fund has partnered with PPMD to support this vital research and tackle…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Treatment with Translarna (ataluren) increased levels of the protein dystrophin in young boys with Duchenne muscular dystrophy (DMD) caused by nonsense mutations, new clinical trial data show. The findings were presented in a webcast by Stuart W. Peltz, PhD, the CEO of PTC Therapeutics, which…