Scholar Rock Announces Positive 12-Month Top-Line Results From the TOPAZ Phase II Clinical Trial Evaluating Apitegromab in Patients With Type 2 and Type 3 Spinal Muscular Atrophy (SMA)

Scholar Rock, a clinical-stage biopharmaceutical company focused on the treatment of serious diseases in which protein growth factors play a fundamental role, announced positive top-line data from the TOPAZ Phase II clinical trial evaluating apitegromab in patients with Type 2 and Type 3 SMA.
[Scholar Rock Inc.]
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Novel Genome-Editing-Based Approaches to Treat Motor Neuron Diseases: Promises and Challenges

Scientists review genome editing approaches aimed either at correcting the disease-causing mutations or at modulating the expression of genetic modifiers, e.g. by repairing SOD1 mutations or SMN2 splicing defect, or deleting C9orf72 expanded repeats.
[Molecular Therapy]
Miccio, A., Antoniou, P., Ciura, S., & Kabashi, E. (2021). Novel genome-editing-based approaches to treat motor neuron diseases: promises and challenges. Molecular Therapy, 0(0). https://doi.org/10.1016/j.ymthe.2021.04.003 Cite
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PTC Therapeutics Announces the European Approval of Evrysdi for the Treatment of Spinal Muscular Atrophy

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.
[PTC Therapeutics, Inc.]
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Spinal Muscular Atrophy (SMA) Foundation and PTC Therapeutics Expand Partnership to Advance Drug Discovery and Development Research in Regenerative Medicine

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.
[The Spinal Muscular Atrophy Foundation]
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Gene-Based Therapies for Neurodegenerative Diseases

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 Neuroscience]
Sun, J., & Roy, S. (2021). Gene-based therapies for neurodegenerative diseases. Nature Neuroscience, 1–15. https://doi.org/10.1038/s41593-020-00778-1 Cite
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Aberrant Interaction of FUS with the U1 snRNA Provides a Molecular Mechanism of FUS Induced Amyotrophic Lateral Sclerosis

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.
[Nature Communications]
Jutzi, D., Campagne, S., Schmidt, R., Reber, S., Mechtersheimer, J., Gypas, F., Schweingruber, C., Colombo, M., von Schroetter, C., Loughlin, F. E., Devoy, A., Hedlund, E., Zavolan, M., Allain, F. H.-T., & Ruepp, M.-D. (2020). Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis. Nature Communications, 11(1), 6341. https://doi.org/10.1038/s41467-020-20191-3 Cite
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Muscular Dystrophy Association Awards 15 Grants Totaling More Than $4 Million for Neuromuscular Disease Research

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.
[The Muscular Dystrophy Association]
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Harmony Lost: Cell–Cell Communication at the Neuromuscular Junction in Motor Neuron Disease

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.
[Trends in Neurosciences]
Gromova, A., & Spada, A. R. L. (2020). Harmony Lost: Cell–Cell Communication at the Neuromuscular Junction in Motor Neuron Disease. Trends in Neurosciences, 43(9), 709–724. https://doi.org/10.1016/j.tins.2020.07.002 Cite
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Cytokinetics and Cure SMA Renew Partnership to Advance Education and Awareness of SMA

Cure SMA and Cytokinetics announced the renewal of their partnership to increase education, awareness, public policy and fundraising for spinal muscular atrophy (SMA).
[Cure SMA (Globe Newswire, Inc.)]
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Scholar Rock Announces that SRK-015 has Received Rare Pediatric Disease Designation from US FDA for the Treatment of Spinal Muscular Atrophy

Scholar Rock, Inc. announced that the FDA has granted Rare Pediatric Disease designation for SRK-015 for the treatment of Spinal Muscular Atrophy, a progressive, rare genetic disease that leads to motor function impairments.
[Scholar Rock, Inc.]
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