Children with spinal muscular atrophy (SMA) who start on a disease-modifying therapy (DMT) — four have been approved in the last decade — before developing symptoms are usually able to feed by mouth, but SMA patients who already have swallowing difficulties before beginning treatment often continue to have…
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The blood creatinine-to-cystatin-c ratio (CCR), an indicator of muscle mass and strength, may be a biomarker of treatment response in children with spinal muscular atrophy (SMA), a study in China shows. Increases in the ratio were significantly associated with gains in motor function following long-term treatment with Spinraza (nusinersen). Although…
The strength of nerve signals to muscles may serve as a marker of disease severity, and as a means to track responses to Spinraza (nusinersen) treatment, in children with spinal muscular atrophy (SMA), the findings of a new study suggest. The research showed that children with SMA type…
Treatment with a high-dose regimen of Spinraza (nusinersen) was shown to safely improve motor function in children with spinal muscular atrophy (SMA) in the Phase 2/3 DEVOTE clinical trial. Most patients who switched from the originally approved dose to the high-dose regimen experienced improvements in motor function scores,…
The case of a 51-year-old man ultimately diagnosed with spinal muscular atrophy (SMA) type 4 is believed to mark the first time this form of the rare genetic disease has had as its main symptom a false enlargement of the large muscle on the back of the lower leg. In…
Women with spinal muscular atrophy (SMA) can experience successful pregnancies and give birth to healthy babies when supported by specialist, team-based care, according to a U.K. case series. The report followed eight pregnancies in six women with SMA, all of which resulted in the birth of healthy babies —…
A rapid test using zebrafish was able to show that two children identified by genetic testing as possibly having spinal muscular atrophy (SMA) did not actually have the progressive disease, according to a new study. This finding, the researchers say, shows how these tiny fish — which have long been…
Treatment with gene therapy significantly prolonged survival and improved motor function in a mouse model of spinal muscular atrophy with respiratory distress type 1 (SMARD1), researchers report. The gene therapy tested in this lab study is now being evaluated in a small U.S. clinical trial (NCT05152823) involving children…
Children with spinal muscular atrophy (SMA) frequently develop what are known as musculoskeletal deformities, or bone and muscle-related problems that include scoliosis, a sideways curvature of the spine, and hip dislocations, according to a new study from China. The researchers found that these problems often persisted or worsened over…
For babies diagnosed with spinal muscular atrophy (SMA) before birth, doctors may be able to plan an early delivery so the baby can start treatment within days instead of waiting for a full-term birth. In a new case report, doctors used this approach for a baby girl with SMA.
