In a joint statement today, Biogen and Ionis Pharmaceuticals announced encouraging interim results from the late-stage ENDEAR clinical trial to test the experimental drug nusinersen in infants with type 1 spinal muscular atrophy (SMA). Based on the results, investigators have stopped the trial to allow all participants to transition into an open-label trial called SHINE, . . .
In March 2016, experts in the ALS community gathered at the ALS Clinical Trials Guidelines 2016 Workshop, supported in part by MDA. With the aim of improving the testing process for experimental therapies to treat ALS, a multinational group that included neurologists, basic scientists, statisticians, patient advocates, representatives from the pharmaceutical industry, regulatory agencies and . . .
PTC Therapeutics announced today that it recently has submitted an appeal to escalate continuing discussions with the U.S. Food and Drug Administration (FDA) about a path toward approval in the United States for Translarna to treat some forms of Duchenne muscular dystrophy (DMD). PTC completed submission of its New Drug Application (NDA) to market Translarna . . .
Stealth Bio Therapeutics has reported encouraging results from a phase 2 clinical trial to evaluate elamipretide for the treatment of muscle weakness caused by mitochondrial disease. Elamipretide is an experimental drug designed to modify disease by helping to restore normal energy production in mitochondria and decrease oxidative stress. In the completed MMPOWER trial, investigators treated . . .
BioMarin Pharmaceutical has announced that it is discontinuing development of BMN 701, an enzyme replacement therapy (ERT) for the treatment of Pompe disease (acid maltase deficiency, or AMD). In Pompe, a deficiency of an enzyme called acid alpha-glucosidase helps break down sugar stored in cells (glycogen). Without this enzyme, glycogen accumulates in cells and . . .
Results from a natural history study for familial (inherited) ALS caused by a mutation in the SOD1 gene have confirmed that a variation of the mutation called SOD1 A4V is associated with a more aggressive disease course when compared to non A4V SOD1 ALS. A variety of mutations in the gene for the SOD1 protein account . . .
Osaka-based Mitsubishi Tanabe Pharma reported on June 20 that it has submitted a New Drug Application (NDA) to the U.S. Food and Drug Administration, seeking marketing approval of its drug edaravone to treat people with ALS (amyotrophic lateral sclerosis). The Japanese pharmaceutical company’s NDA submission marks one of its first steps in establishing a presence in . . .
Peter Jones, associate professor in cell and developmental biology and neurology at University of Massachusetts Medical School in Worcester, was awarded an MDA research grant totaling $300,000 over a period of three years to develop a research mouse model for facioscapulohumeral muscular dystrophy (FSHD). Please describe your current research. Facioscapulohumeral muscular dystrophy (FSHD) is one . . .
Marathon Pharmaceuticals announced today it has submitted a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for the investigational drug deflazacort for the treatment of people with Duchenne muscular dystrophy (DMD). The FDA has 60 days to determine whether the NDA is complete and acceptable for filing. Deflazacort, a glucocorticoid, works . . .