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The European Commission has granted orphan drug designation to viltolarsen, a treatment for people with Duchenne muscular dystrophy (Â鶹Éç) amenable to exon 53 skipping, Nippon Shinyaku announced in a press release. The designation is given to medicinal compounds meant to treat rare conditions that are life-threatening or…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

A single administration of the gene therapy SRP-9003 at a low dose continues to lead to significant improvements in functional measures in three children with limb girdle muscular dystrophy (LGMD) type 2E, one-year data from a Phase 1/2 trial show. When administered at a high dose in three…

Santhera Pharmaceuticals announced the signing of two agreements with Rutgers University related to the development of potential gene therapies for LAMA2-deficient congenital muscular dystrophy (LAMA2 MD). Included are a license agreement as well as a collaboration with Peter Yurchenco, MD, PhD, a professor at Rutgers’ Robert Wood Johnson Medical…

Parent Project Muscular Dystrophy (PPMD) and Duchenne UK have joined forces to offer up to $1 million in funding for gene therapy research in Duchenne muscular dystrophy (Â鶹Éç). The organizations are specifically looking for proposals that address the immune system’s response to gene therapy, a major challenge…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

NS Pharma’s lead candidate viltolarsen safely and effectively increases dystrophin levels and promotes improvements in boys with Duchenne muscular dystrophy (Â鶹Éç) amenable to exon 53 skipping, final data from a Phase 2 trial show. “As a pediatric neurologist who specializes in the treatment of Â鶹Éç, I am encouraged by the dystrophin…

A Phase 2 trial of ATL1102 met its primary goal of demonstrating favorable safety and tolerability in boys with Duchenne muscular dystrophy (Â鶹Éç), final study results show. ATL1102, developed by Antisense Therapeutics, was also effective at lowering the number of immune cells targeted by its mechanism of action, improving upper…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.