The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) safely and effectively treats infants with spinal muscular atrophy (SMA), especially when given within the first two months of life, according to the findings of a real-world, small study in Italy. Zolgensma “is an excellent therapeutic option for SMA patients” the…
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Treatment with Spinraza (nusinersen) was found to improve psychosocial function — the day-to-day ability to contend with environmental and social tasks — in people with later-onset spinal muscular atrophy (SMA) in a new study of health-related quality of life. Importantly, patients’ abilities to communicate with their healthcare providers…
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…
Levels of neurofilament light chain (NfL) in bodily fluids may be a marker of response to treatment with Spinraza (nusinersen) in children with spinal muscular atrophy (SMA) in the early stages of disease, a new study reports. “NfL can be a valuable biomarker for reflecting disease activities, particularly…
An intervention based on giving human milk instead of formula helped to improve the nutritional status of a baby with spinal muscular atrophy (SMA) type 1, a new study reports. “Within days of introducing the [human milk] derived diet as a supplement to his formula diet, [the patient] improved…
Treatment with Spinraza (nusinersen) improved certain aspects of sleep for children with spinal muscular atrophy (SMA) type 1, according to a recent study. Patients were falling asleep sooner and spending more time asleep at night after six months of treatment. There was also evidence of alterations in electrical…
Newborn screening might not be able to detect certain rare genetic mutations that cause spinal muscular atrophy (SMA), according to a case report that recommends doctors be aware of potential false-negatives in screening and know how to spot the typical symptoms of the disease. Researchers describe the case of…
Long-term treatment with Spinraza (nusinersen) led to clinically relevant improvements in motor function for most adults and older children with spinal muscular atrophy (SMA) in a study. “Our data provide real-world evidence for continuous effectiveness and safety of long-term [Spinraza] treatment in adults and older children regardless of…
A new children’s book — one whose story is inspired by the author’s own family — seeks to heighten awareness of spinal muscular atrophy (SMA) while helping young readers appreciate and understand differences in others. Written by Alvarys Santana, the 34-page book, titled “My Sister is Special,”…
Scientists have identified a key mechanism responsible for altered processing in the body’s SMN2 gene that, in people with spinal muscular atrophy (SMA), fails to make the needed SMN protein, new data show. The discovery centers on heterogeneous nuclear ribonucleoprotein R (hnRNPR), part of…
