The US Food and Drug Administration (FDA) this week released a new draft guidance document intended to clarify the development process for new Duchenne Muscular Dystrophy drug treatments. The purpose of this guidance is to assist sponsors in clinical development of drugs treatment of Duchenne muscular dystrophy (DMD) and…
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…
Massachusetts-based charity the FSH Society, dedicated to shedding light on the acioscapulohumeral muscular dystrophy (FSHD) — a little-known variant of the incurable disorder, has been awarded its seventh consecutive Charity Navigator four-star rating. Only two percent of the charities rated by the Charity Navigator — an independent nonprofit…
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…
A lightweight robotic glove developed by engineers at the Wyss Institute for Biologically Inspired Engineering and Harvard John A. Paulson School of Engineering and Applied Sciences (SEAS) in Boston and Cambridge, Massachusetts is bringing the ultimate goal of providing muscle and neurologically impaired patients with the ability to…
Non-profit organization Parent Project Muscular Dystrophy (PPMD) has nominated Duke Children’s Hospital & Health Center as a Certified Duchenne Care Center, a designation that confirms the center’s quality in the treatment of Duchenne muscular dystrophy. Duke Children’s is now the ninth center in the country to be…
A novel study from Max Planck Institute for Heart and Lung Research investigators revealed a novel protein, Prmt5, as a crucial player in the regulation of muscle stem cells during muscle regeneration. The study entitled “Prmt5 is a regulator of muscle stem cell expansion in adult mice”…
This week researchers from the Institute for Neurodegenerative Disease, Massachusetts General Hospital (MGH), Harvard Medical School, released results from a study showing that a key protein associated with the development of Alzheimer’s disease, Amyloid precursor protein (APP), could potentially play an important role in eye and muscle health. The study,…
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…
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