News

Risdiplam significantly improves motor function in pediatric and young adult patients with spinal muscular atrophy (SMA) types 2 and 3, according to interim data from the SUNFISH trial. “The positive outcome of this trial is an important milestone for people with type 2 or 3 SMA, too many of whom…

AveXis, a part of Novartis, is working “diligently” with the U.S. Food and Drug Administration to identify steps necessary to lift the hold on its gene therapy trial in types 2 and 3 spinal muscular atrophy (SMA) patients, but the company does not know what caused the…

BillionToOne’s non-invasive prenatal blood test, which helps diagnose hereditary and rare diseases in fetuses, is now available in Germany, Austria, Switzerland, and the Netherlands, the company announced. The test, which was previously only available in the United States, will be commercialized by Eluthia in these four European countries.

Exercise can help increase levels of the survival motor neuron protein, and could potentially be used as an adjunctive therapy to treat spinal muscular atrophy (SMA), according to a recent study. The study, “Mechanisms of exercise‐induced survival motor neuron expression in the skeletal muscle of spinal muscular…

A type of magnetic resonance imaging (MRI) called diffusion tensor imaging (DTI) allows unique tracking of nerve fibers and could be used to detail changes in the spinal nerve fibers of people with spinal muscular atrophy (SMA), a study reports. DTI could offer new insights into SMA…

High-resolution magnetic resonance imaging (MRI) scans of the facial nerve could provide a non-invasive and accurate way of detecting motor neuron impairments and aid doctors in making a diagnosis of spinal and bulbar muscular atrophy (SBMA), a small study suggests. The study, “The facial nerve atrophy with…

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…

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, “…