Blood levels of troponin-I, a marker for heart muscle damage, are best measured before and after gene therapy in each newborn with spinal muscular atrophy (SMA), a new study concluded. Although elevated troponin-I has been associated with SMA gene therapy, levels above the reference values generated from adults were…
Modified surgery to correct a severe abnormal curvature of the spine in people with spinal muscular atrophy (SMA) allowed for reliable access to the spinal canal for Spinraza (nusinersen) injections, a small study shows. Spinraza, guided by ultrasound, was successfully administered through a small hole created in the…
Consistent access to disease-modifying therapies (DMTs) is a major concern for parent caregivers of children with spinal muscular atrophy (SMA) in Canada, a study reported. Barriers to such treatments, as described by caregivers, included variable regulatory approvals across different Canadian provinces, high costs, and insufficient healthcare infrastructure. “Our…
A newer assessment method known as dEMB, for decomposition electromyography — which uses artificial intelligence (AI) tools to measure nerve and muscle function — strongly correlated with measures of physical function and was able to distinguish people with spinal muscular atrophy (SMA) who were able to walk from those…
Disease-modifying therapies (DMTs) may slow the progression of an abnormal curvature of the spine in people with spinal muscular atrophy (SMA) type 2, a study reported. For those patients treated early, especially ones with no or minimal scoliosis, these findings were particularly significant, according to “Early treatment of…
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…
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…
