The Committee for Medicinal Products for Human Use (CHMP), an arm of the European Medicines Agency, has recommended a label update for Translarna (ataluren) to enable its use in Duchenne muscular dystrophy (DMD) patients who lost their ability to walk. The committee has specifically voted to remove…
A Phase 1 clinical trial of BBP-418, a potential first oral therapy for limb-girdle muscular dystrophy type 2i (LGMD2i), has dosed its first healthy volunteer, ML Bio Solutions announced. The company also announced that children and adults with a confirmed LGMD2i genetic diagnosis are invited to join a natural history…
A partnership between Muscular Dystrophy Canada (MDC) and Technology for Living (TFL) will seek to provide a cough assist device to any adult in British Columbia who has neuromuscular disease and needs one. Under the new partnership, adults who are registered with the…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
At the one year mark, Sarepta Therapeutics’ SRP-9001 micro-dystrophin gene therapy continues to show positive results in four boys with Duchenne muscular dystrophy (DMD) enrolled in a Phase 1/2 study. The therapy improved the boys’ motor abilities and…
People with neuromuscular disorders such as muscular dystrophy are not at a higher risk of acquiring COVID-19, but they do face greater challenges should they become infected. Creating tailored plans to manage risk and adhering to them is especially important. This is the broad take-home message of a…
The European Commission has granted orphan drug designation to viltolarsen, a treatment for people with Duchenne muscular dystrophy (DMD) 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…
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