A study in adults with spinal muscular atrophy (SMA) found that Evrysdi (risdiplam) helps the body produce more functional SMN protein, and also revealed molecular differences between SMA types 2 and 3 that may affect how the disease progresses and responds to treatment. The findings, which showed differences…
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Weak bones in people with spinal muscular atrophy (SMA) may be driven by disrupted muscle-to-bone communication, a study in China showed. The researchers suggested that low levels of SMN protein — a hallmark of SMA — drive low levels of another protein, SNAP23, which in turn impairs the release…
SMA Europe is accepting proposals for research projects that can help scientists better understand spinal muscular atrophy (SMA) and improve outcomes for people living with the condition. This is the organization’s 13th biennial call for proposals. For this round of funding, projects about regeneration of the motor…
Omaveloxolone, a therapy designed to promote anti-stress responses in cells, may help correct stress-related dysfunction in certain cells from people with spinal muscular atrophy (SMA), according to a lab-based study. The treatment works by boosting levels of proteins that help fight stress, including several in a signaling pathway called…
Treatment with Zolgensma (onasemnogene abeparvovec-xioi) helped children with spinal muscular atrophy (SMA) gain or maintain motor milestones and motor function, a real-world study in Japan found. The RESTORE patient registry (NCT04174157) is assessing the long-term safety and efficacy of Zolgensma in clinical settings across 99 locations in the…
The migraine medication flunarizine may help protect nerve cells in spinal muscular atrophy (SMA) by correcting abnormal levels of microRNA, small molecules that help regulate gene activity. Researchers identified widespread microRNA abnormalities in cells and in the spinal cords of SMA mice, particularly at the earliest stages of disease.
Healthcare professionals who specialize in managing spinal muscular atrophy (SMA) are prone to putting off tasks related to patient care, likely because they are stressed and exhausted, a study found. A research team in Spain found a strong relationship between burnout and procrastination, suggesting that professional exhaustion may drive…
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…
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…
