News

A never-before-documented mutation in the SMN1 gene was identified as the cause of spinal muscular atrophy (SMA) type 1 for a baby in Cyprus. The case was reported in a study, “Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression…

Adding a small molecule to a low dose of Spinraza (nusinersen) led to enhanced therapeutic benefits in a mouse model of spinal muscular atrophy (SMA), according to a recent report. The molecule, a PRMT protein inhibitor called MS023, and Spinraza — both of which are able to boost…

For a boy with spinal muscular atrophy (SMA) who was born prematurely, treatment with Spinraza (nusinersen) until he was old enough to receive Zolgensma (onasemnogene abeparvovec) was a safe and effective therapeutic approach, according to a case report from Canada. The infant, who had been diagnosed presymptomatically…

After a year of treatment with oral Evrysdi (risdiplam), 80% of babies with pre-symptomatic spinal muscular atrophy (SMA) were able to sit without support for at least five seconds. The findings met the primary outcome measure of RAINBOWFISH, a Phase 2 clinical trial (NCT03779334) evaluating the therapy…

Breathing disruptions during sleep, which were prevalent in infants with spinal muscular atrophy (SMA), tended to improve on Zolgensma (onasemnogene abeparvovec) treatment without the need for additional interventions, according to a recent study. The only children who required treatment for sleep disordered breathing were those who had existing…

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…

Intellectual disability is not common among children with type 2 and 3 spinal muscular atrophy (SMA), but some aspects of cognitive function might be impaired in these children, according to a recent study. In particular, performance in specific tasks involving working memory — easily accessible information retained for…

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…

Michael, a spinal muscular atrophy (SMA) patient who I treat, has had his new wheelchair for about three years, although has had difficulty transitioning into it due to needed modifications. Unfortunately, the chair he had been using stopped working and he was forced to get into the new…

A first patient has been dosed in a Phase 2 clinical trial evaluating the safety and efficacy of NMD670, an oral treatment candidate for spinal muscular atrophy (SMA) type 3, its developer, NMD Pharma, announced. Called SYNAPSE-SMA (NCT05794139), the trial is now recruiting adults, ages 18…