spinal muscular atrophy

[Scholar Rock (Business Wire, Inc.)] Scholar Rock, a clinical-stage biopharmaceutical company, announced that the US FDA has granted Fast Track designation for apitegromab, a selective inhibitor of myostatin activation, for the treatment of patients with Spinal Muscular Atrophy.

[Trends in Molecular Medicine] Researchers discuss the therapeutic modulation of RNA splicing using Duchenne muscular dystrophy, Becker muscular dystrophy, and spinal muscular atrophy as primary studies.

[Scientific Reports] Motor function was analyzed by three behavioral tests. Engraftment of human amniotic fluid stem cell in organs were assessed by flow cytometry and RNA scope.

[PTC THerapeutics, Inc.] PTC Therapeutics, Inc. announced that results from Part II of the pivotal FIREFISH trial demonstrated that infants with type 1 spinal muscular atrophy treated with Evrysdi™ obtained increases in survival and sustained improvements in achieving key motor milestones, including head control, sitting, rolling over, and further developing towards acquiring the ability to stand, and walk.

[Scholar Rock Inc.] 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.

[Molecular Therapy] 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.