News

Professor Liza Pon, PhD, a leading researcher at the department of pathology and cell biology at Columbia University in New York, was recently awarded a $300,000, three-year research grant from the Muscular Dystrophy Association (MDA) to continue her work in congenital muscular dystrophy (CMD). In a recent interview conducted by…

This week, a group of interdisciplinary researchers from universities throughout Italy released study findings with potentially important clinical implications for patients with Duchenne muscular dystrophy (DMD). The study, entitled “Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy,” focused on understanding the pathophysiology of dilated cardiomyopathy (DCM), a major…

Marathon Pharmaceuticals, a company that develops new medications for rare diseases with a focus on patients who have no treatment options, recently announced that the U.S. Food and Drug Administration (FDA) has issued a rare pediatric disease designation to deflazacort to treat patients with Duchenne Muscular Dystrophy (DMD). Deflazacort is an oxazoline…

Researchers at the University of Michigan Department of Molecular & Integrative Physiology have deciphered a molecular connection leading to a potential mechanism to overcome protein dysfunction in Duchenne muscular dystrophy (DMD). The research paper, entitled “Dystrophin–glycoprotein complex regulates muscle nitric oxide production through mechanoregulation of AMPK signaling,” was…

BioBlast Pharma Ltd. has announced positive results from its Phase 2 open label clinical trial, HOPEMD, of Cabaletta (IV trehalose) in 25 patients suffering from oculopharyngeal muscular dystrophy (OPMD). OPMD is an uncommon disease in which progressive muscle-wasting occurs. People with OPMD have severe problems with swallowing (dysphagia), which can cause them…

Researchers at the University of Missouri have reported the complete and successful treatment of Duchenne muscular dystrophy (DMD) in dogs through injection of a viral vector carrying a dystrophin micro gene, leading to recovery of all muscles. Clinical trials involving humans are being planned as a next step for the team.

Parent Project Muscular Dystrophy (PPMD) announced the submission of results from its recent patient-centered benefit-risk assessment (PCBR) study to the U.S. Food & Drug Administration (FDA). PCBR studies incorporate patient assessment information and preferences in industry and regulatory decision-making. The PPMD study, developed in partnership with and sponsored by Santhera Pharmaceuticals, incorporated…

A heart rate-corrected 6-minute walk test (6MWT) is a more accurate outcome measure than the standard 6MWT, and should be pondered as a future outcome measure of walking capability in patients with neuromuscular diseases, according to the results of a recent study published in the journal PLOS One.

Developer of novel RNA-targeted therapeutics, Sarepta Therapeutics, recently announced the U.S. Food and Drug Administration’s (FDA) Peripheral and Central Nervous System Drugs Advisory Committee has given a tentative schedule after its review of the company’s filed New Drug Application (NDA) for the Duchenne muscular dystrophy (DMD) product eteplirsen. The committee initially set…

PTC Therapeutics, Inc., reported last week its findings from a Phase III, double-blind, placebo-controlled, 48-week ACT study of Translarna (ataluren) in patients with Duchenne muscular dystrophy (DMD). Translarna is a first-in-class, oral formulation of a protein restoration treatment for nonsense mutation DMD (nmDMD). According to the company’s report, the drug was…