The U.S. Food and Drug Administration (FDA) accepted Genentech‘s application requesting approval for risdiplam, its potential oral treatment for all types of spinal muscular atrophy (SMA), and gave it priority review. An agency decision is expected on or before May 24, 2020. If approved, risdiplam would become…
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Maximal voluntary isometric contraction testing (MVICT) may be a better outcome measure than the six-minute walking test (6MWT) in clinical trials involving people with spinal muscular atrophy who are able to walk without assistance, a study has found. The study, “Outcome measures in a cohort of ambulatory…
Targeted next generation sequencing (NGS) — a powerful genetics method that can identify mutations in several genes simultaneously — may help diagnose people with spinal muscular atrophy (SMA)-like symptoms who do not carry SMA-causative mutations, a Japanese study shows. This low-cost, non-invasive, fast, and efficient approach might be…
SRK-015, an investigational treatment designed to improve muscle strength and motor function in people with spinal muscular atrophy (SMA), interacts with its intended target in a dose-dependent manner, increasing by up to 100-fold the levels of latent myostatin in the blood, according to preliminary data from a Phase…
The levels of neurofilament heavy chain and tau — two proteins commonly used as biomarkers of nerve cell degeneration in several neurodegenerative disorders — may not be useful as biomarkers to evaluate neurodegeneration during the initial stages of treatment with Spinraza in people with spinal muscular atrophy (SMA) …
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…
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.
