Steve Bryson, PhD,  science writer—

Elevated levels of neutralizing antibodies against AAV9, which can reduce the efficacy of the gene therapy Zolgensma (onasemnogene abeparvovec), were uncommon in infants and young children with spinal muscular atrophy (SMA), a study found. It also showed that anti-AAV9 antibody levels, highest in early infancy, declined over time,…

A novel smartphone sensor-based assessment tool is able to capture day-to-day changes in motor function in people with spinal muscular atrophy (SMA), according to a proof-of-concept study. The digital tasks are engaging and easy to complete for most SMA patients, and the results are reliable, matching those from established…

Treatment with Spinraza (nusinersen) was found to improve psychosocial function — the day-to-day ability to contend with environmental and social tasks — in people with later-onset spinal muscular atrophy (SMA) in a new study of health-related quality of life. Importantly, patients’ abilities to communicate with their healthcare providers…

About 80% of the people living with spinal muscular atrophy (SMA) in the U.S. have used telemedicine at least once, with patients turning to it more frequently than their caregivers, according to a 2021 Cure SMA survey. SMA patients also expressed being more comfortable with telemedicine, and perceive…

Scientists have identified a key mechanism responsible for altered processing in the body’s SMN2 gene that, in people with spinal muscular atrophy (SMA), fails to make the needed SMN protein, new data show. The discovery centers on heterogeneous nuclear ribonucleoprotein R (hnRNPR), part of…

Current therapeutic approaches have helped to improve motor function in the majority of children with spinal muscular atrophy (SMA) type 1 in Spain, a study reports. The study, “Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children:…

Boosting the production of the growth factor protein NRG1-III improved motor nerve fiber development in the early stages in a mouse model of spinal muscular atrophy (SMA), a study showed. NRG1-III was unable to prevent nerve fibers from degenerating or improve motor function or survival in older mice, however.

The MiR34 family of microRNAs represents a set of promising biomarkers to assess therapeutic response in spinal muscular atrophy (SMA), a study proposes. MicroRNA levels in the cerebrospinal fluid (CSF), the liquid surrounding the brain and spinal cord, before and during therapy, predicted and correlated with improved motor function…

A pilot study describes how researchers successfully implemented a newborn genetic screening in Osaka, Japan, to identify infants with spinal muscular atrophy (SMA) as early as possible. No false-positive results occurred in about 23,000 samples screened in the study; after implementation, newborn screening detected one presymptomatic SMA infant who…

Unusual mutations in the SMN1 gene, the underlying cause of spinal muscular atrophy (SMA), were detected in two young patients using ultra-long read sequencing (ultra-LRS), a method to analyze large segments of DNA. “Our study highlights the importance of ultra-LRS in the clinical application of SMA,” the researchers noted…