An 8-month-old girl with a clinical and genetic diagnosis of spinal muscular atrophy (SMA) type 1 saw her condition improve after starting treatment with Evrysdi (risdiplam), according to a recent case reported in China. Specifically, the treatment improved the girl’s muscle tone and head control as well…

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 (TNI)…

The case of a boy with spinal muscular atrophy (SMA) who had severe hyperlordosis — when the lower part of the spine curves more than is normal, forcing the belly to protrude and leading to an almost C-shaped curve over the buttocks — was described in a recent report.

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 in…

Scholar Rock remains on track to report topline results later this year from its ongoing Phase 3 clinical trial of apitegromab in children and young adults with spinal muscular atrophy (SMA) types 2 or 3. Apitegromab is an antibody that targets myostatin, a protein involved in suppressing muscle…

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 reach…

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…

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…

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…

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…