News

Researchers at Columbia University Medical Center (CUMC) have succeeded in using high-resolution electron microscopy visualize the intracellular channel involved in the contraction of the skeletal muscle. The study, “Structural Basis for Gating and Activation of RyR1,” was published in Cell. A number of conditions are known to affect various body…

Children with Duchenne muscular dystrophy (DMD) show signs of excessive activity in certain leg muscles, an apparent reaction by the body to compensate for the instability caused by muscle weakness associated with this disease. This compensation mechanism may have a negative impact on the muscles and increase the effort necessary…

Researchers have found that a specific protein, CD82, is a marker for muscle stem cells and its expression is reduced in muscular dystrophy patients, suggesting a potential role for this previously unknown protein in the disease. The study, “CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells…

Monday’s announcement by the Food and Drug Administration (FDA) of accelerated approval for Exondys 51 (eteplirsen) injection, the first drug given approval for the treatment of Duchenne muscular dystrophy (DMD), was a much-celebrated likely conclusion to a debate that saw the resignation of Sarepta Therapeutics’ (makers of Exondys 51)…

In a recent article titled “Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy” and published in the International Heart Journal, Dr. Koichi Kimura of the University of Tokyo and colleagues present a review of the current strategies and suggest treatment options to treat heart failure in BMD.

The U.S. Food and Drug Administration has granted accelerated approval to Exondys 51 (eteplirsen), by Sarepta Therapeutics, making it the first drug approved to treat Duchenne muscular dystrophy (DMD) patients. Specifically, this treatment is for DMD patients with a confirmed mutation of the dystrophin gene amenable to exon 51 skipping.

The U.S. Food and Drug Administration has approved Sarepta Therapeutics’ therapy Exondys 51 (eteplirsen) as a treatment for Duchenne muscular dystrophy patients with a confirmed mutation of the dystrophin gene amenable to exon 51 skipping. While this particular mutation affects only about 13 percent of the DMD patient population, Exondys 51 is now the…

Researchers at  Stony Brook University, in New York, found that a protein (dystroglycan) of the muscle whose impaired activity contributes to the pathology of Duchenne muscular dystrophy, also plays a key role in brain development. Because previous research has shown that Duchenne muscular dystrophy (DMD) patients may also develop neurological conditions…

Australia’s drug regulatory agency, the Therapeutic Goods Administration (TGA), has granted  Santhera Pharmaceuticals’ lead product Raxone (idebenone) orphan drug designation for the treatment of Duchenne muscular dystrophy (DMD). Raxone (sold in some markets under the trade name Catena) has already received a similar designation from European, Swiss, and…

 PTC Therapeutics marked Sept. 7 — World Duchenne Awareness Day — by announcing the four winner of the company’s 2016 global STRIVE Awards (Strategies to Realize Innovation, Vision and Empowerment) program. STRIVE awards are granted in recognition of extraordinary excellence and innovation by nonprofit organizations that serve rare disease communities, such as…