Author Archives: Steve Bryson, PhD

First-line Zolgensma (onasemnogene abeparvovec-xioi) outperformed first-line Spinraza (nusinersen) in achieving a more sustained clinical response and reducing the need for supportive care among young children with spinal muscular atrophy (SMA) type 1, according to…

Children with spinal muscular atrophy (SMA) type 1 can survive an episode of pediatric acute respiratory distress syndrome (pARDS), a type of life-threatening respiratory failure, according to a 12-year case series. While “pARDS remains a clinical challenge…

In a new interview-based study, adults with spinal muscular atrophy (SMA) reported a lack of care coordination during their transition from pediatric to adult care settings — along with poor communication, no clear transition plans, and…

Gene therapy GC101 safely improves or stabilizes motor function in children and adolescents with spinal muscular atrophy (SMA) types 2 and 3, a small study reports. Genecradle Therapeutics is also running three Phase 1/2 clinical trials…

Adults with spinal and bulbar muscular atrophy (SBMA) have elevated levels of neurofilament light (NfL) chain and glial fibrillary acidic protein (GFAP), two biomarkers for nerve damage, in the cerebrospinal fluid (CSF) that surrounds the brain and…

A novel mutation in the ASAH1 gene was identified as the cause of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) in a 4-year-old boy, according to a recent report. Despite the genetically confirmed…

Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less…

Not all healthy children acquire full feeding skills by 2 years, according to a study that applied an instrument called DySMA — which assesses swallowing in infants and children with spinal muscular atrophy (SMA) who are…

Motor improvements in adults with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen) paralleled a boost in the strength and duration of electrical impulses along nerves that supply the muscles, a study shows. In an…