Blood levels of tiny cell-released particles called extracellular vesicles (EVs) could serve as a tool to track disease progression and treatment response in people with spinal muscular atrophy (SMA), a small study suggests. Researchers discovered that these microscopic particles, which carry cargo between cells, were elevated in untreated SMA…
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Two previously unknown large deletions involving the SMN1 gene, whose loss is the primary cause of spinal muscular atrophy (SMA), were identified in two women with a mild form of the disease using long-read whole-genome sequencing (LR-WGS), a technology that can help identify difficult-to-detect genetic changes. “Integrating LR-WGS with…
Spinraza (nusinersen) is able to help slow lung function decline in people with spinal muscular atrophy (SMA), even if treatment is started when patients are already experiencing disease symptoms, a new study shows. The beneficial effects of the approved SMA therapy on lung function were generally more pronounced…
People with spinal muscular atrophy (SMA) show high long-term adherence to treatment with Evrysdi (risdiplam), with several patients remaining on the oral therapy after three years, according to a real-world study in Spain. The observational study, which involved adults and children with different SMA types, demonstrated that all…
The use of disease-modifying therapies (DMTs) — all widely approved in the last 10 years — may help children with spinal muscular atrophy (SMA) maintain nutrition and prevent stunted growth, an Australian study suggests. Children with SMA type 1 and type 2 who received approved DMTs…
Treatment with Spinraza (nusinersen) was linked to measurable changes in a range of cerebrospinal fluid (CSF) biomarkers in people with spinal muscular atrophy (SMA), some of which were associated with improvements in motor function, according to a review of published studies. Among the protein changes seen in CSF,…
Evidence-based guidelines have been developed for newborn screening (NBS), diagnosis, and early management of spinal muscular atrophy (SMA) in Australia and New Zealand to help ensure that all affected children are identified and treated as early as possible. “The study informs best practice within a new diagnostic and therapeutic…
Children with spinal muscular atrophy (SMA) who were diagnosed through newborn screening and treated early had better long-term independence and daily functioning, especially when supported by multidisciplinary care at home and at school, according to a real-world study from Australia. “Multidisciplinary care is important to meet the changing and…
The U.S. Food and Drug Administration (FDA) is expected to decide in the coming months whether or not to approve apitegromab, an experimental muscle-strengthening agent designed to improve motor function in people with spinal muscular atrophy (SMA). Scholar Rock, the company developing apitegromab, resubmitted its application…
Children with spinal muscular atrophy (SMA) who have two or fewer copies of the SMN2 gene — a feature typically associated with more severe disease — are more likely to start treatment early and reach key motor milestones if they are diagnosed through screening programs, a U.S. survey study suggests.
