AVXS-101 may become a valuable gene therapy option for babies with spinal muscular atrophy (SMA) type 1, according to the results of a Phase 1 clinical trial conducted by AveXis. SMA is caused by mutations in the SMN gene, which leads to the impairment of motor neurons, which work to…
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Dr. Jocelyn Côté, an RNA metabolism expert at the University of Ottawa, has received $140,000 in basic research funding from Cure SMA and Families of SMA Canada. Côté will investigate survival motor neuron (SMN) protein regulation for clues that could lead to new treatment approaches for spinal muscular atrophy (SMA).
Cytokinetics has begun enrolling a second group of patients for a Phase 2 clinical trial of CK-2127107 as a treatment for spinal muscular atrophy (SMA). The announcement follows an independent Data Monitoring Committee’s review of the therapy’s safety, absorption, distribution, metabolism, and excretion in Cohort 1. The randomized, double-blind, placebo-controlled,…
San Francisco-based Invitae has developed a genetic test to diagnose spinal muscular atrophy (SMA), the company announced at the March 21-25 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting in Phoenix. SMA is the second leading genetic disorder affecting children in the United States. One in every 10,000 kids has SMA,…
Cytokinetics’ next-generation fast skeletal troponin activator CK-2127107 improves muscle function in mouse models of spinal muscular atrophy (SMA), according to a preclinical trial study. The findings were presented at the MDA Scientific Conference in Arlington, Virginia. Cytokinetics and Astellas Pharma are developing CK-2127107 (CK-107) as a treatment for SMA and…
Children with spinal muscular atrophy type I (SMA-I) have a tough time performing pair-matching tests, which may be related to their poor social interactions, researchers suggest. The study, “Matching pairs difficulty in children with spinal muscular atrophy type I” appeared in the journal Neuromuscular Disorders. SMA is classified in four…
Nearly half of young people with spinal muscular atrophy (SMA) — and especially those who are underweight — have abnormally high levels of leptin, a metabolic hormone linked to both disease severity and limited mobility, says a new study. The findings show that SMA is associated with abnormal metabolic processes, and researchers suggests…
Cure SMA, an organization dedicated to the treatment and cure of spinal muscular atrophy (SMA), has launched a booklet addressing some of the broader questions about insurance coverage that are common to the SMA community. Decisions can seem overwhelming when faced with a new SMA diagnosis or when caring for…
Children with spinal muscular atrophy (SMA) have poor bone health that leads to common thigh-bone fractures, regardless of the state of their disease, according to a study. Although few of the children could be classified as having osteoporosis, researchers noted that osteoporosis criteria were developed for healthy children. That means the…
Spinal muscular atrophy (SMA) is a step closer to being on a list of diseases that the U.S. government recommends newborns be screened for. Although making the Recommended Uniform Screening Panel list will constitute a powerful statement of support for SMA screening, decisions about what diseases newborns are checked for are…
