In a study conducted in mice, scientists led by an MDA-funded researcher found that increasing the amount of a certain mitochondrial membrane protein, mitofusin-1 (MFN1), lessened symptoms of Charcot-Marie-Tooth disease (CMT) type 2A. The findings suggest that it may be possible to treat CMT2A using gene-replacement therapies that deliver functional copies of missing or mutated . . .
The Muscular Dystrophy Association (MDA) is pleased to announce a collaboration with the Broad Institute of MIT and Harvard, which aims to bring genetic diagnoses to more individuals living with limb-girdle muscle weakness. The goal of the LGMD Rare Genomes Project is to bring the most advanced genetic techniques, including whole-genome sequencing and genetic variation . . .
On April 8, Audentes Therapeutics announced that it will expand its gene-targeted therapy platform to include developing experimental drugs for Duchenne muscular dystrophy (DMD) and myotonic dystrophy type 1 (DM1). The company has entered into a licensing agreement with Nationwide Children’s Hospital in Ohio and will collaborate with leading researchers in the field, Kevin M. Flanigan, . . .
Today, the Muscular Dystrophy Association (MDA) announced the awarding of eight new grants totaling more than $2 million toward research focused on amyotrophic lateral sclerosis (ALS), a disease in which muscles become weak and eventually nonfunctional. Since its inception, MDA has invested more than $165 million in ALS research, and in the last five years . . .
At MDA, we believe in the power of research and the importance of building relationships among families, clinicians, and the scientists making discoveries to advance treatments and therapies. We invite individuals living with a neuromuscular disease, as well as caregivers and loved ones, to attend MDA Engage symposia taking place across the country. MDA Engage . . .
On Mar. 28, Sarepta Therapeutics announced encouraging interim results from a phase 3 clinical trial that suggest the experimental drug casimersen potentially may be effective as a treatment for Duchenne muscular dystrophy (DMD). Earlier this year, the U.S. Food and Drug Administration (FDA) accepted Sarepta Therapeutics’ New Drug Application (NDA) seeking approval under Priority Review for . . .
On Mar. 5, the U.S. Food and Drug Administration (FDA) awarded Orphan Drug designation to Acceleron Pharma’s ACE-083, a locally acting muscle agent, for treating Charcot-Marie-Tooth disease (CMT). Delivered by intramuscular injection, ACE-083 is based on the naturally occurring protein follistatin and is designed to enhance the body’s own promoters of muscle growth, specifically in . . .
On Feb. 27, Sarepta Therapeutics announced positive interim results of a phase 1/2a clinical trial for MYO-101, a gene therapy candidate developed by Myonexus Therapeutics for patients living with limb-girdle muscular dystrophy type 2E (LGMD2E), also known as beta-sarcoglycanopathy. The first three patients dosed demonstrated significant expression of the protein beta-sarcoglycan in the muscle fiber, . . .
On Feb. 25, Amicus Therapeutics announced that the U.S. Food and Drug Administration (FDA) granted breakthrough therapy designation (BTD) to AT-GAA, Amicus’ investigational combination drug therapy ATB200/AT2221 for treating late-onset Pompe disease. The company’s combination drug therapy pairs ATB200, a synthetic human acid alpha-glucosidase enzyme meant to replace the missing enzyme in Pompe disease, with pharmacological chaperone AT2221, . . .
On Feb. 14, Sarepta Therapeutics announced that the U.S. Food and Drug Administration (FDA) accepted its New Drug Application (NDA) seeking approval under Priority Review for golodirsen (SRP-4053), its drug candidate for treating Duchenne muscular dystrophy (DMD) in patients amenable to skipping exon 53. Priority Review status requires the FDA to review the application and . . .