News

In children with spinal muscular atrophy (SMA) who begin treatment with Spinraza (nusinersen) after they are 2 months old, levels of a protein called cathepsin D in the fluid around the brain decline over time. This decline tends to be more pronounced in those who respond better to…

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…

The availability of early genetic testing and approval of several spinal muscular atrophy (SMA) treatments has dramatically changed disease outcomes, while introducing ethical issues in terms of screening, predicting SMA severity, and patient access to therapy. As such, appropriate information and support should be given to parents and patients…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Playing video games can be a challenge for people with spinal muscular atrophy (SMA). Multiplayer games may pit them against those who are able-bodied, action role-playing games force them to do multiple motions on a controller with one hand, and fighting games reward players for quick-twitch muscle moves. Painted…

Most of the children with spinal muscular atrophy (SMA) who received the gene therapy Zolgensma (onasemnogene abeparvovec) in their first weeks of life are able to walk independently within developmentally normal age ranges, according to new research from the SPR1NT clinical trial. The findings were presented at this year’s…

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…

Even when given to young children with spinal muscular atrophy (SMA) at ages older than 6 months, the gene therapy Zolgensma (onasemnogene abeparvovec) can improve motor function, an analysis of real-world data show. Indeed, more than 70% of babies treated between 6 and 24 months had better scores…

Treatment with Evrysdi (risdiplam) continues to be safe and well tolerated in people with spinal muscular atrophy (SMA) who have previously received other therapies for SMA, according to one-year data from the JEWELFISH clinical trial. Results also suggest that motor function has been stable in JEWELFISH participants after a…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…