The U.S. Food and Drug Administration (FDA) has placed a partial hold on a Phase 1/2 clinical trial testing AVXS-101, given by intrathecal (IT) injection to young children with spinal muscular atrophy (SMA), citing concerns seen in an early animal study using this method of delivering the gene…
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Physical exercise, including running and swimming, improved muscle energy metabolism in mice with milder forms of spinal muscular atrophy (SMA), a study has found. The results, “Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy,” were published in…
With about 100 spinal muscular atrophy (SMA) patients already treated with Zolgensma (onasemnogene abeparvovec-xioi) since the gene therapy’s May approval in the United States, and expected growth in newborn screening, the groundbreaking treatment that is also the world’s most expensive is off to a robust start, Novartis…
A mutation in the KIF5A gene, found in four Spanish siblings, causes a rare form of spinal muscular atrophy (SMA) known as adult-onset distal SMA (DSMA), according to a case report. DSMA mainly affects the distal muscles, or those further from the center of the body. The report, “…
Deficits in the secretion of a protein called CTRP3 by muscle cells contribute to the significantly lower survival motor neuron (SMN) protein levels observed in spinal muscular atrophy (SMA), a mouse study suggests. These findings indicate that restoring CTRP3 levels in people with SMA could potentially increase SMN…
Adhering to a low-fat diet may be beneficial for people with spinal muscular atrophy (SMA), a mouse study suggests. Mice fed on low-fat diets lived longer, and showed reduced liver damage and lower reliance on fat as an energy source, according to preliminary findings. Additional clinical studies are still…
Levels of the survival motor neuron (SMN) protein — which are significantly low in spinal muscular atrophy (SMA) patients — naturally rise during gestation and then fall in the three months before and after birth, highlighting a critical window for treating SMA that runs up to the first three months of…
Spinraza (nusinersen) improves or stabilizes motor and lung functions in adults with spinal muscular atrophy (SMA) type 3, an observational German study suggests. The findings, which are significant compared with the disease’s natural history, need to be further confirmed in larger real-world studies, the researcher said. The study, “…
A single injection of Zolgensma into the spinal canal (intrathecal) can provide a clinically meaningful response in motor function gains among young children, 2 to 5 years old, who have spinal muscular atrophy (SMA) type 2, recent trial data show. Half of these older patients…
SRK-015, an experimental treatment for spinal muscular atrophy (SMA), continues to produce promising results in preclinical studies and in a Phase 1 trial of healthy volunteers, its developer, Scholar Rock, has announced. “We are excited for the potential role of SRK-015 as the first muscle-directed therapy…
