After five years of treatment with Evrysdi (risdiplam), people with spinal muscular atrophy (SMA) types 2 and 3 continue to see stabilization and improvement in measures of motor function. That’s according to new long-term data from the Phase 2/3 clinical trial SUNFISH (NCT02908685), sponsored by Roche, which…
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Children with spinal muscular atrophy (SMA) given the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) in infancy are maintaining motor milestones after up to a decade of follow-up, according to new long-term clinical trial data. “At their last assessment, … patients [given the now-approved dosage of Zolgensma] were able to…
OAV101 IT, a version of the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) that’s administered into the spinal canal, can be safely given to people with spinal muscular atrophy (SMA) who were previously treated with other SMA therapies, according to new data from a clinical trial. “No [adverse events] leading…
The Muscular Dystrophy Association‘s (MDA) annual Clinical & Scientific Conference kicked off over the weekend, bringing together patients, caregivers, researchers, clinicians, academics, advocates, and industry leaders to discuss the latest in science and care related to a range of neuromuscular diseases. This year’s conference will bring together hundreds…
Adults with spinal muscular atrophy (SMA) recommend individually tailored patient-reported outcome measures, or PROMs, to accurately gauge their lived experience, with a focus that goes beyond assessments of physical function to incorporate mental health, sexual function, sleep, and fatigue. “New or modified patient-reported outcome measures should be developed collaboratively…
Poor sleep is associated with more severe depressive symptoms and respiratory issues in adults with spinal muscular atrophy (SMA), a survey study of 50 patients in Italy reports. Adequate sleep was more likely to be lacking and symptoms of depression were more severe in people with SMA type…
The National Organization for Rare Disorders (NORD) is seeking participants for its survey-based study Living Rare, which aims to better understand the real-world lived experiences of people in the U.S. with rare diseases. Living Rare, the first large-scale study of its kind in the U.S., seeks to capture the…
Tests by MRC Holland for identifying genetic mutations associated with spinal muscular atrophy (SMA) have met new regulatory requirements in the European Union (EU), enabling them to remain certified for diagnostic use. Products that have received the new certification include the MC002 Newborn Screen, MLPA Probemix P060 SMA Carrier,…
Disease-modifying therapies (DMTs) may help lower the risk of children’s bone fractures among young patients with spinal muscular atrophy (SMA), a study by U.S. researchers suggests. “Drug therapy led to a decrease in fracture occurrence,” the scientists wrote, noting that “patients on treatment had fewer fractures compared [with] pretreatment.”…
Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…
