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A recent U.S. Food and Drug Administration (FDA) memorandum to the agency’s Peripheral and Central Nervous System Drugs Advisory Committee expresses skepticism regarding BioMarin Pharmaceutical Inc.’s Muscular Dystrophy drug candidate Kyndrisa (drisapersen) for treatment of Duchenne muscular dystrophy in patients with mutations amenable to exon 51 skipping. Duchenne muscular dystrophy…

In a new study entitled “Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype,” a team of researchers identified a single gene – Jagged1 – as the potential critical player capable of “rescuing” Duchenne muscular dystrophy phenotype in dogs that exhibit a complete absence of dystrophin. The study was published…

Results from a recent study published in the Journal of Pedriatric Orthopaedics showed full-time wheelchair use is a risk factor of first fracture among pediatric male patients with Duchenne or Becker muscular dystrophy. However, no correlation was found between fracture and corticosteroid use in these patient populations. Muscular…

Results from a study observing myotonic dystrophy type 2 (DM2) patients has helped pinpoint which disease symptoms are most important to patients with this rare type of muscular dystrophy. According to the study authors, the findings could help create a roadmap for doctors to prioritize treatments. The study titled “Patient-Reported…

A recent article published in the Annals of Neurology describes promising results from a Phase 2b study of eteplirsen in patients with Duchenne muscular dystrophy (DMD). The study, titled “Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD,” is the result of a collaborative effort between researchers from…

Muscular dystrophies (MDs) cause progressive weakness of muscles in young boys. Although treatments alleviate the symptoms and slow down disease progression, there is no cure for MDs. Research in regenerative medicine may offer novel therapies to restore muscle function in MDs patients as shown by scientists at KU Leuven University in…

Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene expressed in differentiated myofibers. Researchers at The Ottawa Hospital and the University of Ottawa recently discovered that muscle stem cells also express dystrophin, affecting the generation of functional muscle fibers. Their discovery could revolutionize understanding of the disease and eventually…

Ringo, a golden retriever, has made an important contribution to science by helping researchers discover a gene that inhibits the consequences of dystrophin loss in Duchenne muscular dystrophy (DMD). Even though Ringo carried the classic DMD mutation, he and one of his male offsprings had a variant in the Jagged1 gene that allowed…

aTyr Pharma, Inc., has announced an expansion of its Phase 1b/2 clinical trial to continue the development and evaluation of efficacy and safety of the Resolaris clinical program, for the treatment of early onset facioscapulohumeral muscular dystrophy (FSHD) patients. Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscular disorder, characterized by progressive muscle…

ISIS Pharmaceuticals, a company focusing on the development of RNA-targeted drug discovery using its antisense technology platform, announced it earned a $2.8 million milestone payment from Biogen to continue developing the ongoing Phase 1/2a study of ISIS-DMPK-2.5Rx for the treatment of myotonic dystrophy type I (DM1) patients. This payment stems from a collaboration with Biogen and…