News

The FSH Society, a nonprofit, patient-driven organization supporting research and education for facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent forms of muscular dystrophy, recently announced it will be the beneficiary of a number of fundraising events during this fall. The events which are aimed to raise awareness for the FSH…

BioMarin Pharmaceutical, Inc., a company that develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions, has officially launched kNOWyourDuchenne, a program dedicated to assisting families and clinicians gain access to genetic testing for patients with Duchenne muscular dystrophy (DMD). This first-of-its-kind program will work to pinpoint specific genetic mutations linked to…

A new study entitled “GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice” and published in the Skeletal Muscle Journal by Chapel Hill, North Carolina and Northwestern University in Chicago researchers, demonstrates that the GRAF1 protein aids in the repair…

A new report titled “Improving clinical trial design for Duchenne muscular dystrophy“, published in the journal BMC Neurology, suggests that some novel treatments for Duchenne muscular dystrophy (DMD) may have positive effects in those affected by the disease but these results are not showing up in clinical trials due to the way studies are being designed.

Sarepta Therapeutics, Inc., a biopharmaceutical company focused on the development of innovative RNA-based therapeutics, recently announced that the U.S. Food and Drug Administration (FDA) has filed the New Drug Application (NDA) for the company’s eteplirsen. A NDA is the vehicle through which drug sponsors formally propose FDA to approve a new…

The Muscular Dystrophy Association (MDA) on August 26th announced its awarding of $10 million in new grants to scientists conducting leading-edge research on muscular dystrophy, ALS and related muscle-debilitating diseases. Through its investigator-initiated application process, MDA had received 350 grant requests — a record number in its 65-year history of…

A study recently published in the journal Scientific Reports reported the development of a novel in vitro model of the early pathogenesis of Duchenne muscular dystrophy (DMD) using stem cells. The study is entitled “Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human…

Duchenne muscular dystrophy (DMD) is the most frequently inherited human myopathy and, as the name implies, is characterized by wasting of the muscles throughout the body. The disease is caused by a mutation of the dystrophin gene at the X chromosome and is characterized by muscle weakness of the voluntary muscles. The hips, pelvic area, thighs,…

BioMarin Pharmaceutical Inc. has recently announced that the United States Food and Drug Administration (FDA) attributed a rare pediatric disease designation for drisapersen, a potential treatment for individuals suffering with Duchenne Muscular Dystrophy (DMD) who are responsive to exon 51 skipping treatment. Drisapersen has been previously granted Orphan Drug and Fast…

In a new study entitled “Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells” a team of scientists developed an induced pluripotent stem cell model to study Duchenne muscular dystrophy and discover new therapeutic drugs. The study was published in the journal…