News

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…

I’ve been working with a patient, Michael, who has spinal muscular atrophy. Michael uses a motorized wheelchair, and recently moved to a new chair. Since then, he has experienced increased right hip and tailbone pain off and on with numbness down his right leg as he’s tried to get…

Most individuals with spinal muscular atrophy (SMA) type 2 experience improvements in physical abilities within a year after starting treatment with Spinraza (nusinersen). However, about 1 in 3 patients had some loss of function in the first year after beginning the approved SMA therapy. That’s according to…

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…

Jerry R. Mendell, MD, has been named to the inaugural TIME100 Health list for his decades-long contributions to the treatment of neuromuscular diseases — such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) — and the advancement of gene therapy. The global media brand’s…

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…

EXG001-307, an investigational nerve cell-targeting gene therapy being developed by Exegenesis Bio, was well tolerated and helped a small group of young children with spinal muscular atrophy (SMA) type 1 to better control their heads and sit up on their own. That’s according to new data from…

Twenty-six children were diagnosed with spinal muscular atrophy (SMA) in Russia through a 2022 pilot program, out of nearly 203,000 newborns who were screened for the rare genetic disease. That’s according to a study, “Epidemiology of Spinal Muscular Atrophy Based on the Results of a…