The first patient has been dosed in a clinical trial testing GB221, a next-generation gene therapy for spinal muscular atrophy (SMA) type 1. “I would like to express our gratitude for the young child and family who were courageous in being the first to accept our investigational gene therapy…
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Damage to blood vessels in the spinal cord may play a role in nerve cell loss in spinal muscular atrophy (SMA), a new study suggests. A detailed examination of spinal cord tissue from infants who died from severe SMA detected abnormalities in the cells that line spinal cord blood…
Spinal muscular atrophy (SMA) is associated with multi-organ changes in a protective protein modification that helps guard cells against molecular damage, according to a study in mice. The researchers also found that treatment with antisense oligonucleotides — the same type of SMN-targeting approach used in Spinraza…
Low levels of SMN protein in muscle stem cells (MuSC) — specialized cells that help sustain muscle growth and regeneration — may contribute to the loss of motor neurons, the nerve cells that control movement and are progressively lost in spinal muscular atrophy (SMA), a new study in mice…
Treatment with Evrysdi (risdiplam) may modestly improve arm function for adults with spinal muscular atrophy (SMA), a new study from the Czech Republic and Slovakia indicates. Findings suggest that adults with SMA generally have stable motor and lung function over three years of Evrysdi treatment. Evrysdi “was associated…
Children with spinal muscular atrophy (SMA) often struggle to get a good night’s sleep — and their caregivers also commonly report feeling sleep-deprived, according to a new study. “Sleep problems have potentially critical consequences for children and are also to a great extent related to caregivers’ sleep. We therefore…
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…
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,…
