A year’s worth of salbutamol improved the breathing function and respiratory muscle strength of children with spinal muscular atrophy, according to a small-sample study. The research, “Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy,” was published in Pediatric Neurology. Previous studies had shown that oral…
Families living with spinal muscular atrophy (SMA), like most people, favor screening for genetic disorders. Yet those who lack experience with SMA generally take a far more negative view of the disease. That’s according to a new study, “The role of experiential knowledge within attitudes towards genetic carrier screening: A…
Cytokinetics revealed preliminary data on the characteristics of patients with spinal muscular atrophy (SMA) screened for a Phase 2 trial to investigate the safety, tolerability and pharmacokinetics of CK-2127107. Data were presented by Cytokinetics’ director of clinical research, Stacy Rudnicki, MD, at the Cure SMA 2017 Annual SMA Conference in Orlando,…
Preliminary results from a phase 2 trial confirm that the investigational drug RG7916 targets the underlying genetic cause of type 2 and type 3 spinal muscular atrophy (SMA), PTC Therapeutics has announced. RG7916 is an oral drug that modulates the splicing of the SMN2 gene to increase production…
Cure SMA announced the start of Phase 2 of its SMA Industry Collaboration, aiming to advance the development of specific goals. “The SMA Industry Collaboration is a multifaceted partnership that brings together pharmaceutical companies, Cure SMA, and other nonprofit organizations, to share information, ideas, and data,” according to a…
Blocking a protein receptor called m2R may prevent motor neuron death, leading to new therapies for spinal muscular atrophy (SMA), according to a study. The research, “Decreased microRNA Levels Lead To Deleterious Increases In Neuronal M2 Muscarinic Receptors In Spinal Muscular Atrophy Models,” was published in the online journal…
The patient advocacy group Cure SMA will host a webinar May 4 on access to Spinraza (nusinursen), the first drug ever to be approved to treat spinal muscular atrophy (SMA). The webinar will cover several topics, including the current status of Spinraza dosing at U.S. administration sites, commercial and government insurance policies, trial…
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…
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,…
Researchers conducted a questionnaire-based study to learn more about pregnancy and delivery in women with spinal muscular atrophy (SMA), knowing this information will be useful to doctors who want to provide the best counseling to their SMA patients considering motherhood. The study, “Pregnancy And Delivery In Women With Spinal…
