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Implementing the global compassionate use program (CUP) that enabled more spinal muscular atrophy (SMA) patients to access Evrysdi (risdiplam) required close collaboration with patient advocacy groups and careful consideration of local regulations, according to a new report. Taking such steps was key in helping the CUP to…
Despite treatment with leuprorelin over three years, all spinal and bulbar muscular atrophy (SBMA) patients in a study in Korea continued to experience declines in motor function, a new study found. However, those individuals with less disability at the start of treatment experienced slower disease progression, “indicating a…
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…
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…
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.
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…
While working with any population that isn’t able to independently move around, or doesn’t move frequently for any reason, pressure sores should be checked for regularly. We call these skin checks and they are done to check frequently affected areas, such as bony places on the body or places where…
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,…
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…
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