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…
Adults with spinal muscular atrophy (SMA) type 3 showed deficits in certain areas of cognition, particularly executive function or the ability to regulate one’s own actions, according to a recent study in Chinese patients. Data from the small analysis suggest that these issues tend to be more pronounced in…
Treatment with Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec) led to increases in the electrical activity of motor neurons — the specialized nerve cells that control voluntary movement — for two young children with type 1 spinal muscular atrophy (SMA), according to a new report. Findings from tests…
People with spinal muscular atrophy (SMA) may experience bouts of breathlessness during sleep that can look at first glance like obstructive sleep apnea (OSA), but is not associated with a blockage of the airways that defines the sleep disorder, a case study highlights. Distinguishing between true sleep apnea and…
Measuring the electrical activity of a pair of nerves that control arm movement, called the median nerves, could help assess how people with spinal muscular atrophy (SMA) respond to Evrysdi (risdiplam). That’s according to “Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic…
A never-before-documented mutation in the SMN1 gene was identified as the cause of spinal muscular atrophy (SMA) type 1 for a baby in Cyprus. The case was reported in a study, “Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression…
A targeted test looking for mutations in known disease-associated genes in spinal muscular atrophy (SMA) was found to be a useful first step in identifying the cause of rare types of SMA, a new study reports. In fact, according to the researchers, “a total of ten patients with causative…
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…
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…