spinal muscular atrophy

[PTC Therapeutics, Inc.] PTC Therapeutics, Inc. announced that the European Commission (EC) has granted marketing authorization to Evrysdi™ for the treatment of spinal muscular atrophy(SMA) in patients 2 months and older. The EC approval was based on two studies; 1) the efficacy results from the FIREFISH study in infants aged 2 to 7 months with symptomatic Type 1 SMA, and 2) the SUNFISH study in children and young adults with Type 2 or 3 SMA.

[The Spinal Muscular Atrophy Foundation] The Spinal Muscular Atrophy (SMA) Foundation and PTC Therapeutics, Inc. have entered into a new collaboration focused on regenerative medicine to further advance scientific research in SMA and other neuromuscular disorders with the goal of developing new treatments.

[Nature Neuroscience] The authors highlight advances in the development and application of gene-based therapies for neurodegenerative diseases and offer a prospective look into this emerging arena.

[Nature Communications] Investigators showed that ALS-associated Fused in Sarcoma (FUS) RNA-binding protein aberrantly contacts U1 snRNA at the Sm site with its zinc finger and traps snRNP biogenesis intermediates in human and murine motor neurons.

[The Muscular Dystrophy Association] The Muscular Dystrophy Association (MDA) announced the awarding of 15 new MDA grants totaling more than $4 million toward research focused on a variety of neuromuscular diseases, including Duchenne muscular dystrophy, Charcot-Marie-Tooth disease, Becker’s muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy.

[Trends in Neurosciences] Scientists consider the biology of the neuromuscular junction (NMJ) and review emerging lines of investigation that are highlighting the importance of cell-cell interaction at the NMJ in spinal muscular atrophy, X-linked spinal and bulbar muscular atrophy, and amyotrophic lateral sclerosis.