Patrícia Silva, PhD,  director of science content—

Researchers at the Second University of Naples in Italy recently described the clinical characteristics of patients with a specific deletion in the dystrophin gene. The study was published in the journal Acta Myologica and is entitled “Clinical features of patients with dystrophinopathy sharing…

Researchers at Royal Victoria Infirmary and the Institute of Genetic Medicine in the United Kingdom recently conducted a review on the short stature and delayed puberty often seen in patients with Duchenne muscular dystrophy (DMD). The study was published in the journal Archives of Disease…

Researchers at the University of Oxford in the United Kingdom recently published in the journal Experimental Physiology a review on the recent progress in genetic based therapies for Duchenne muscular dystrophy (DMD). The study is entitled “Advances in genetic therapeutic strategies for Duchenne…

Researchers at UCL Institute of Child Health in the United Kingdom reported new insights into muscle stem cell transplantation therapy in muscular dystrophy mouse models. The study was recently published in the journal Skeletal Muscle and is entitled “The effect of the muscle…

BioBlast Pharma Ltd., a biotechnology company focused on rare genetic diseases, recently announced the start of a Phase 3 pivotal trial (NCT02328482) in the United States and Canada for its product Cabaletta (trehalose) for oculopharyngeal muscular dystrophy (OPMD). OPMD is a rare inherited neuromuscular disease characterized by muscle…

A study recently published in the journal PNAS revealed new insights into a gene called Smchd1 that is involved in muscular dystrophy development. The study is entitled “Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation” and was conducted by a team led by researchers…

Santhera Pharmaceuticals, a Swiss company focused on the treatment of mitochondrial and neuromuscular diseases, recently announced that it has discussed with the U.S. Food and Drug Administration (FDA) its plans of submitting a New Drug Application (NDA) for Raxone ® /Catena ® (idebenone), intended as a therapy for…

A new study recently published in the International Journal of Clinical and Experimental Pathology characterized the immune factors involved in the pathogenesis of dysferlinopathy in patients. The study is entitled “CD4(+) cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy” and was conducted by researchers…

A new study published in the journal Human Molecular Genetics revealed a new therapeutic approach that could potentially alter the progression of muscle damage and dysfunction in patients with myotonic dystrophy. The study is entitled “TWEAK/Fn14, a pathway and novel therapeutic target in myotonic…

A new collaborative group involving academic and industry researchers and patient advocacy groups conducted a large-scale study to find serum biomarkers for Duchenne muscular dystrophy (DMD). The study was recently published in the journal Proceedings of the National Academy of Sciences (PNAS) and is entitled “…