Infants with suspected spinal muscular atrophy (SMA) who are directly referred to an SMA care center may experience shorter wait times than those referred to general neurology practices, according to a survey of these specialists deployed by Cure SMA. While both types of practices reported using triage methods…
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In children with spinal muscular atrophy (SMA) who have a less-than-optimal response to the gene therapy Zolgensma (onasemnogene abeparvovec-xioi), subsequent treatment with Spinraza (nusinersen) can improve motor function and may reduce nerve damage. That’s according to interim data from the Phase 4 RESPOND study (NCT04488133),…
The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) didn’t cause any unexpected safety issues among children with spinal muscular atrophy (SMA) who weighed up to 21 kg (about 46 pounds) in a Phase 3b clinical trial, and most had stable or improved motor function a year after treatment. That’s…
Genetic alterations related to two genes, SMN2 and NAIP, could help to predict the severity of spinal muscular atrophy (SMA), according to a recent analysis. Among patients with SMA type 1 and type 2 in Egypt, all of whom had standard disease-causing mutations in the SMN1 gene, fewer copies…
Combining a low dose of risdiplam, the active ingredient in Evrysdi, with a therapy like Spinraza (nusinersen) boosted SMN protein production beyond what the individual treatments do in cells from spinal muscular atrophy (SMA) patients, a study shows. The low-dose combination demonstrated synergistic benefits while minimizing the…
For the cast and crew of the musical comedy “Most Likely Not To…”, remembering high school moments via a trip back to their high school reunion allows them to put the spotlight on life with disabilities and the way ableism colors everyday situations. The one-night show — performed today, on…
Children with spinal muscular atrophy (SMA) can still experience swallowing difficulties despite early treatment with disease-modifying therapies, a small study shows. Swallowing was either incomplete, with liquid remaining in the mouth and/or esophagus, and/or unsafe due to aspiration (the inhalation of liquid into the lungs), in all of the…
A young girl whose muscle weakness and respiratory distress in infancy were treated only as such was diagnosed as a 1-year-old with a severe form of spinal muscular atrophy (SMA), scientists in Pakistan report. She died shortly after her SMA type 1 diagnosis, and after starting on supportive…
In a small real-world study that tracked adults with spinal muscular atrophy (SMA) treated with Evrysdi (risdiplam) for more than 18 months, most patients saw their motor function remain stable or even improve. Nearly all of the study’s participants reported being generally satisfied with the approved SMA medication…
A previously unknown breathing problem — called pseudo-obstructive sleep-disordered breathing — has been discovered among people with spinal muscular atrophy (SMA) type 2, a study reveals. This unusual breathing pattern during sleep is caused by an imbalance between the SMA-related weakness in the chest muscles and the relatively unaffected…
