Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improves motor function in children with spinal muscular atrophy (SMA) who carry at least four copies of the so-called backup SMN2 gene, according to real-world data from the RESTORE patient registry. SMA children treated with the approved gene therapy achieved several motor milestones…
Patients with spinal muscular atrophy (SMA) in China and their caregivers have low levels of health information literacy, or the ability to access, understand, evaluate, and use information to make health decisions, according to a study. In interviews, patients and caregivers indicated they had difficulties in assessing and evaluating…
Treatment with Spinraza (nusinersen) generally stabilized or improved motor function for older patients with spinal muscular atrophy (SMA), according to a review and meta-analysis of previously published observational studies. The new analysis, which spanned a treatment period of up to two years, involved adults and adolescents with various…
Treatment with an investigational high-dose regimen of Spinraza (nusinersen) was well tolerated and significantly improved motor function in infants with spinal muscular atrophy (SMA) relative to untreated patients, according to top-line data from the pivotal portion of a Phase 2/3 clinical trial. Results from the DEVOTE study…
Children with spinal muscular atrophy (SMA) exhibit widespread metabolic disruption — changes that affect the body’s metabolism — relative to children without SMA, according to a new Chinese study. Metabolic analyses of the cerebrospinal fluid (CSF), the fluid surrounding the brain and spinal cord, indicated metabolic disruption across several…
SMA Europe has released a new documentary titled “One Community. Shared Dreams.” as part of an awareness initiative aimed at highlighting the importance of interdisciplinary collaboration among researchers to advance the understanding of spinal muscular atrophy (SMA). The documentary shares the personal stories of people around the…
Training with a wearable robotic hybrid assistive limb (HAL) device over two years was found to markedly improve the walking abilities of three patients with spinal and bulbar muscular atrophy (SBMA) who were also receiving treatment with leuprorelin, according to a new study by researchers in Japan. No notable…
An infant was diagnosed with Down syndrome coexisting with spinal muscular atrophy (SMA) type 1, a case study reported. “The coexistence of [Down syndrome] and SMA poses unique challenges due to overlapping clinical features,” the researchers wrote in the case study, “A Rare Genetic Intersection: Down…
A milder form of spinal muscular atrophy (SMA) was discovered in two siblings who carry a common mutation in one SMN1 gene and a rare mutation in the other, a new study by Mayo Clinic researchers reported. Skin cells from the brother and sister showed higher levels of SMN,…
Newborn screening for spinal muscular atrophy (SMA) is now available to all babies born in Canada. The milestone announcement from Muscular Dystrophy Canada (MDC) means babies will be tested weeks after birth for SMA to allow prompt access to treatment, before symptoms appear and irreversible damage occurs, increasing…
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