A newborn screening program for spinal muscular atrophy (SMA) in Latvia can diagnose babies within two weeks of birth, according to a new study. The study, “New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study,” was published in the International Journal of Neonatal…
In the RAINBOWFISH trial testing oral Evrysdi (risdiplam) in babies with spinal muscular atrophy (SMA) but no evident symptoms, most of the seven children treated for at least one year were able to stand and walk within developmentally normal windows. These new data were presented at the Muscular Dystrophy Association…
Editor’s note: The SMA News Today team is providing in-depth coverage of the 2021 MDA Virtual Clinical and Scientific Conference, March 15–18. Go here to read the latest stories from the conference. The Phase 2 RAINBOWFISH trial of Evrysdi (risdiplam) in newborns up to 6 weeks old with a…
The EONIS system, a screening assay capable of simultaneously testing newborns for three genetic conditions, including spinal muscular atrophy (SMA), has received a CE marking from the European Commission for an in vitro device. The approval will allow its developer, PerkinElmer, to make the EONIS device available…
The frequency with which spinal muscular atrophy (SMA) is found in newborns may be lower than previously thought, according to one-year data from an SMA screening program in the state of New York. Based on expected disease frequency, the program anticipated that 20 to 38 of the more than 225,000…
Continuing treatment for spinal muscular atrophy (SMA) is essential and should not be considered elective, or be delayed or interrupted if possible, despite the healthcare limitations imposed by the COVID-19 pandemic.  These are the main recommendations given unanimously by a panel…
Meeting its goal in less than half the time, the Clinic for Special Children (CSC) in Pennsylvania Dutch Country has completed its program to identify spinal muscular atrophy (SMA) carriers among Amish and Mennonite communities across 15 states. The nonprofit CSC conducted 2,177 tests in 15 months,…
Newborns diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS) and who carry four copies of the SMN2 gene should start treatment immediately, just as those with two or three SMN2 copies should, according to updated guidelines by a working group of SMA experts. The group…
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,…
The Wisconsin State Laboratory of Hygiene is using Quantabio‘s technology to improve newborn screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). The laboratory is developing a faster, easier and cost-effective way to simultaneously screen for both conditions. The test also can be used to…