Author Archives: Lindsey Shapiro PhD

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…

The practice of vacuum swallowing, a maneuver involving effort that’s intended to aid the movement of food through the throat, helped a man with spinal muscular atrophy (SMA) who had dysphagia, a swallowing impairment. “This is the first report of successful instruction and acquisition of vacuum swallowing in…

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…

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…

Long-term treatment with Spinraza (nusinersen) was associated with improved or stable motor function in patients across the spinal muscular atrophy (SMA) disease spectrum, according to an analysis of real-world registry data. “To date, this is the largest prospective study over the longest observational period of [Spinraza] therapy…

Measures of grip strength or mobility may help to capture subtle changes in upper limb function for children with spinal muscular atrophy (SMA), particularly for patients who are overall less severely affected, according to findings from a recent study. The Revised Upper Limb Module (RULM), which is a standard…

Treatment with the gene therapy Zolgensma (onasemnogene abeparvovec) led to improved breathing and motor function for a young boy who was experiencing unstable spinal muscular atrophy (SMA) symptoms on Spinraza (nusinersen), according to a case report from Japan. A year after receiving Zolgensma at the age of…

Levels of the neurofilament light protein, known as NfL — which serves as an indicator of neurodegeneration — may be a helpful biomarker for monitoring disease progression and treatment responses in children with spinal muscular atrophy (SMA), a new review study suggests. Across six published studies, culled from more…