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,…
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…
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…
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…
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…
Risdiplam continues to show promise as a safe and effective therapy for people with spinal muscular atrophy (SMA) types 1, 2 and 3, according to the latest results from ongoing clinical trials. Data from the FIREFISH (NCT02913482), SUNFISH (NCT02908685), and JEWELFISH (NCT03032172) clinical trials were presented at the…
Spinal muscular atrophy (SMA) is a rare genetic disease with several subtypes. Patients and their caregivers may have a difficult time finding reliable information about SMA, so here are some frequently asked questions and answers about the disease: What is SMA? SMA is a neurodegenerative disease characterized by the…
Scientists have developed a fast, efficient and economical method to create viral delivery vectors used in gene therapy to deliver modified versions of genes to treat disorders caused by genetic defects, including spinal muscular atrophy (SMA). The findings were reported in the study, “Production of adeno-associated virus…
As my 22nd birthday rapidly approaches, I almost can’t comprehend it. The thought of my birthday has seemed surreal for the past several days. To most people, turning 22 probably isn’t that big of a deal. You don’t get to do anything new. Your friends start to tease you about…