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 . . .
When Dr. Ryan Wuebbles stepped into a lab in 2002 to study muscular dystrophy, he wasn’t just a bright-eyed, eager graduate student. He was also a young man who wanted to understand his own disease.
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 . . .
Results from a phase 3 trial to test eculizumab in patients with refractory generalized myasthenia gravis (MG) show that the drug did not have a statistically significant effect on the primary endpoint — the Myasthenia Gravis – Activities of Daily Living profile (MG-ADL), a patient-reported index of daily living assessment. Alexion Pharmaceuticals, which is . . .
Sarepta Therapeutics announced today that the U.S. Food and Drug Administration (FDA) has requested that the company provide dystrophin data from biopsies that were taken as part of the ongoing confirmatory study of eteplirsen, called PROMOVI. The data was requested by the agency in connection with its ongoing evaluation of Sarepta’s New Drug Application (NDA) . . .
BioMarin Pharmaceutical announced May 31 that it is discontinuing development of its exon skipping drug drisapersen. The company recently withdrew its Marketing Authorization Application (MAA) from the European Medicines Agency (EMA) following discussions at the May 2016 Committee for Medicinal Products for Human Use (CHMP) meeting that indicated the CHMP intended to issue a negative . . .
Kim Staats, a postdoctoral researcher at the University of Southern California in Los Angeles, was awarded an MDA development grant totaling $180,000 over a period of three years to study potential causes for sporadic amyotrophic lateral sclerosis (ALS). Using a cutting-edge approach to identify genetic contributors in sporadic ALS, Staats has found a new gene . . .
