News

PTC Therapeutics recently revealed the 5 winners of its inaugural global awards program, the STRIVE Awards (Strategies to Realize Innovation, Vision and Empowerment). These awards seek to help not-for-profit organizations that cater to the Duchenne muscular dystrophy (DMD) community. PTC made the announcement during the international World Duchenne Awareness Day held on Monday,…

Researchers studying characteristics of cells isolated from muscular dystrophy patients may have found a new target to develop precision medicine. The research team found that certain molecules are increased in defective muscle fibers, and treatments that act against these molecules, such as anti-inflammatories, may be able to block their action.

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,…