Author Archives: Marisa Wexler MS

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) can improve motor outcomes for children with spinal muscular atrophy (SMA) effectively, especially when it’s given in the first months of life, a review paper shows. “There is substantial evidence of improved outcomes when Zolgensma is administered early to children…

A group of proteins called the SNARE complex, which normally helps regulate how nerve cells receive chemical messages from other nerves, is disrupted in spinal muscular atrophy (SMA), according to a study with mouse models. The findings suggest a deficiency in SMN, the protein missing in SMA, may…

Children with spinal muscular atrophy (SMA) given Zolgensma (onasemnogene abeparvovec-xioi) gene therapy in clinical trials are maintaining, years later, the motor milestones they achieved in the original studies — and some have hit additional milestones even without further treatment. That’s according to data from long-term follow-up (LTFU)…

More than 1 in 4 ambulatory spinal muscular atrophy (SMA) patients experienced clinically meaningful improvements in walking ability after being treated with Spinraza (nusinersen), according to an analysis of real-world findings in Europe. “Our data demonstrate a positive effect of [Spinraza] treatment on motor function in ambulant pediatric…

Most children with spinal muscular atrophy (SMA) given the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) retain motor function that exceeds what’s normally seen in untreated disease, according to a new analysis. In fact, a significant number of children who received the approved gene therapy were found to achieve…

Some videos on YouTube, particularly in-depth ones made by healthcare professionals, provide high-quality and reliable information about treatments for spinal muscular atrophy (SMA), a new study highlights. But many of the examined videos concerning SMA treatments are neither high quality nor reliable, the researchers found, adding importance to…

In people with spinal muscular atrophy (SMA) who have been on long-term treatment with Spinraza (nusinersen), levels of the protein tau in the spinal fluid are decreased, a new study indicates. The findings imply that measuring levels of tau might be a useful marker for predicting the…

A new computational tool developed by Pacific Biosciences can identify genetic mutations that cause spinal muscular atrophy (SMA) with high accuracy and could help identify “silent carriers” who aren’t detected by current tests, a new study reports. The study, “Comprehensive SMN1 and SMN2 profiling…

Newborn screening for spinal muscular atrophy (SMA), coupled with early access to disease-modifying therapies, can improve the likelihood that children with the disease will be able to walk, a new study suggests. Also, fewer patients in the newborn screening group tended to require ventilatory or feeding…

Treatment with the muscle strengthener pyridostigmine may reduce patient-reported fatigue among people with spinal muscular atrophy (SMA), results from a small clinical trial suggest. Still, the treatment failed to ease motor fatigue and improve motor function compared with a placebo — which were the main goals of…