Author Archives: Steve Bryson PhD

The use of ultrasound to guide the administration of Spinraza (nusinersen) injection into the spinal canals of adults with spinal muscle atrophy (SMA) significantly reduced the number of needle redirections compared with a standard, landmark-based approach, according to a clinical trial. Among patients with spinal deformities, ultrasound…

Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improves motor function in children with spinal muscular atrophy (SMA) who carry at least four copies of the so-called backup SMN2 gene, according to real-world data from the RESTORE patient registry. SMA children treated with the approved gene therapy achieved several motor…

An infant was diagnosed with Down syndrome coexisting with spinal muscular atrophy (SMA) type 1, a case study reported. “The coexistence of [Down syndrome] and SMA poses unique challenges due to overlapping clinical features,” the researchers wrote in the case study, “A Rare Genetic Intersection:…

A milder form of spinal muscular atrophy (SMA) was discovered in two siblings who carry a common mutation in one SMN1 gene and a rare mutation in the other, a new study by Mayo Clinic researchers reported. Skin cells from the brother and sister showed higher levels of…

Treatment with Spinraza (nusinersen) extended the distance adults with spinal muscular atrophy (SMA) type 3 could walk during a six-minute walking test (6MWT), but they walked farther during the first minute than the sixth, a sign of fatigability despite treatment, a study suggests. “The increase in 6WMT…

An abnormal buildup of fat in the liver, referred to as fatty liver disease, was found to be common in a small group of children and adults with spinal muscular atrophy (SMA), regardless of their disease type or severity. Patient-derived liver cells confirmed that such accumulation was a…

Most children with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen) in a real-world setting had normal lab test results on measures of treatment safety, according to a new analysis. “These data should provide useful information for clinicians to assess the safety of [Spinraza] therapy in the…

DNA contamination from sample processing remains a major problem in spinal muscular atrophy (SMA) newborn screening, a study reported. Researchers proposed analytic cut-off values to clearly separate samples testing positive for SMA from negative samples. Data also showed that adding a freezing step before DNA extraction led to…

Following treatment with gene therapy Zolgensma (onasemnogene abeparvovec-xioi), adding a second therapy, such as Spinraza (nusinersen) or Evrysdi (risdiplam), did not prevent widespread muscle disease progression in infants at risk of spinal muscular atrophy (SMA) type 1, a real-world study found. Although children treated with…

Treatment with Spinraza (nusinersen) improved motor function in children, adolescents, and adults with spinal muscle atrophy (SMA) who were unable to walk without assistance, according to a four-year real-world analysis. Moreover, nine of the 12 patients who underwent continuous evaluations while on Spinraza over the four years…