Author Archives: Lindsey Shapiro PhD

More than half of the children with spinal muscular atrophy (SMA) type 1 who received disease-modifying therapies (DMTs) in their first year of life showed cognitive deficits in a recent study. Cognitive problems were more likely in boys and in those who required assisted ventilation or feeding.

Researchers described what they believe to be the oldest asymptomatic person with genetically confirmed spinal muscular atrophy (SMA) to have ever been reported in a case study. The 60-year-old man, who came in with symptoms of numbness thought to be due to a pinched nerve in the neck,…

Switching to oral Evrysdi (risdiplam) from another disease therapy is safe for spinal muscular atrophy (SMA) patients, with side effects similar to those observed in clinical trials involving patients new to treatment, according to a two-year analysis from the JEWELFISH clinical trial. Exploratory efficacy analyses also suggest…

Spinal muscular atrophy (SMA) patients in the U.S. exhibited high rates of adherence to their prescribed regimen of Evrysdi (risdiplam) over a year, according to a recent analysis of pharmacy prescription fill data. “High adherence to and persistence with [Evrysdi] were observed among patients with SMA over…

Researchers have developed a new laboratory technique for measuring levels of Spinraza (nusinersen), an approved treatment for spinal muscular atrophy (SMA), in biological fluids. The test is expected to help overcome some limitations of other approaches now in use, and may therefore aid scientists and physicians when studying the…

A range of genetic mutations associated with spinal muscular atrophy (SMA) were linked to abnormal activation of the immune system in fly models, which a team of U.S. researchers believe could be a mechanism that contributes to neurodegeneration in the rare disease. Altogether, the evidence indicated that these…

More high-quality studies are needed to understand the mechanisms of fatigue in spinal muscular atrophy (SMA) and to identify which, if any, SMA therapies or interventions might be able to truly ease the common but often troublesome symptom. That’s according to a new review study that found…

Tiny carriers of cellular cargo called extracellular vesicles (EVs) — isolated from stem cells found in fat tissue — improved motor performance and slowed motor nerve cell degeneration in a mouse model of spinal muscular atrophy (SMA), according to recent research. Researchers believe these so-called ASC-EVs may offer…

The troponin T (TNT) protein — a marker of heart muscle damage — was elevated in the bloodstream of more than half of spinal muscular atrophy (SMA) patients, especially in younger children with more severe disease, a recent analysis shows. Another heart-specific form of troponin called troponin I…

New research has identified mechanisms by which Evrysdi (risdiplam), an approved spinal muscular atrophy (SMA) therapy, has more specific effects at its target gene than branaplam, a similar molecule that was investigated as a possible SMA treatment, but later discontinued. Both molecules modify a process called splicing…