Real-world treatment with Zolgensma (onasemnogene abeparvovec-xioi) was associated with motor and survival benefits for people with spinal muscular atrophy (SMA), data from the RESTORE patient registry shows. Greater motor improvements and a better safety profile were generally seen in those who’d been diagnosed via…

Despite concerns about long-term efficacy and safety, gene therapy was the first choice treatment for most parents of children with spinal muscular atrophy (SMA), whether diagnosed via newborn genetic screening or symptoms, according to a new survey study. However, the amount and type of information parents received upon their…

More work is needed to expand access to the gene therapy Zolgensma (onasemnogene abeparvovec) for people with spinal muscular atrophy (SMA) living outside of wealthy countries like the U.S. or Australia. That’s the argument made by researchers in the paper, “Gene therapy-based strategies for spinal muscular…

How spinal muscular atrophy (SMA) manifests among people who carry four copies of the SMN2 gene varies, ranging from type 2 to type 4, with functional abilities showing a tendency to decline with age, a study in Italy finds. Understanding how the disease progresses over time and what influences…

For a boy with spinal muscular atrophy (SMA) who was born prematurely, treatment with Spinraza (nusinersen) until he was old enough to receive Zolgensma (onasemnogene abeparvovec) was a safe and effective therapeutic approach, according to a case report from Canada. The infant, who had been diagnosed presymptomatically…

Breathing disruptions during sleep, which were prevalent in infants with spinal muscular atrophy (SMA), tended to improve on Zolgensma (onasemnogene abeparvovec) treatment without the need for additional interventions, according to a recent study. The only children who required treatment for sleep disordered breathing were those who had existing…

The European Commission (EC) has extended its approval of Evrysdi (risdiplam) to treat babies with spinal muscular atrophy (SMA) who are younger than 2 months old, making the therapy now available to treat SMA patients across all age ranges in Europe. Evrysdi was first approved in the European Union…

Note: This column describes the author’s own experiences with Evrysdi (risdiplam). Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. “The drug likely won’t be effective on you. You’re in your 20s, and you’ve deteriorated to the point where you…

About 80% of the people living with spinal muscular atrophy (SMA) in the U.S. have used telemedicine at least once, with patients turning to it more frequently than their caregivers, according to a 2021 Cure SMA survey. SMA patients also expressed being more comfortable with telemedicine, and perceive…

“Walk-n-Rolls,” storytelling, and candle-lightings mark some of the events happening this August for SMA Awareness Month, in an effort to raise disease knowledge, patient advocacy, and research funding to help find a cure for the rare genetic disease. Each August, SMA Awareness Month strives to raise awareness of spinal…