Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
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Asuragen has launched the AmplideX PCR/CE SMN1/2 Plus Kit, which according to the company provides the most comprehensive analysis of genes associated with spinal muscular atrophy (SMA) on the market and does so in a matter of hours. SMA is caused by mutations in the SMN1 gene,…
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…
