Parents of children and young adults with spinal muscular atrophy (SMA) reported significant unmet needs, including respite care, mental health support, and community connection, according to an interview study. Three-quarters of the parents also expressed interest in developing a tailored parenting program to help them better care for their…
News
Treatment with Evrysdi (risdiplam) generally stabilized motor and respiratory function for up to 2.5 years in adults with spinal muscular atrophy (SMA), according to a real-world study in Slovenia. The study included 11 adults with SMA types 2, 3, and 4. “These results add to the limited database…
Using wearable sensors during clinical tests may help doctors objectively measure changes in movement ability for people with spinal bulbar muscular atrophy (SBMA), a study reports. “These findings support incorporating wearable sensors into clinic assessments and encourage future work using home-based monitoring in larger SBMA cohorts,” researchers wrote. Despite…
The U.S. Food and Drug Administration (FDA) has granted breakthrough therapy designation to salanersen, a new, more potent Biogen treatment for spinal muscular atrophy (SMA) that’s now in late-stage testing. The treatment candidate, being evaluated in two ongoing Phase 3 clinical trials, is similar to — but…
A combination of genetic testing approaches enabled researchers in Spain to more accurately characterize complex genetic changes that may help explain differences in disease severity in spinal muscular atrophy (SMA), according to a new study. The findings suggest that “combining multiple genetic diagnostic techniques” enables more accurate genetic characterization…
Problems with swallowing, also called dysphagia, remain a concern for many children with spinal muscular atrophy (SMA) type 1 despite available treatments, a real-world study reports. Researchers examined swallowing in patients with SMA type 1 receiving disease-modifying therapies (DMTs). They found that…
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…
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…
