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 significantly…
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 a…
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 achieved…
Chronic pain is common among people with spinal muscular atrophy (SMA) across all age groups, according to a Swiss study. Patients who had surgery to correct scoliosis, a sideways curvature of the spine, were most likely to have chronic pain, as were females and adolescents. “Awareness should be…
A two-week course of transcutaneous spinal cord stimulation (tSCS), a noninvasive method of stimulating the spinal cord using electrical impulses, can improve motor function, breathing, and knee motion in people with spinal muscular atrophy types 2 and 3, a study suggests. “Further studies are needed to elucidate the reasons…
SMN-K186R, a modified version of the SMN protein that is deficient in people with spinal muscular atrophy (SMA), was more effective than normal SMN when delivered by gene therapy, a mouse study demonstrated. Treatment with lower doses of the modified SMN gene therapy, to reduce liver-related toxicity seen…
A program designed to provide data and tools for people with spinal muscular atrophy (SMA) identified through newborn screening (NBS) can help families and clinicians engage with public health agencies and ensure the best possible outcomes, a study found. The Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and…
A girl with spinal muscular atrophy (SMA) undergoing surgery to correct scoliosis, an abnormal sideways curvature of the spine, experienced a severe drop in blood pressure and oxygen levels due to the position of the surgical table, according to a case study. The tilt of the table that…
A harness system designed for children with movement difficulties, the Portable Mobility Aid for Children (PUMA) improved or stabilized motor function among young patients treated for spinal muscular atrophy (SMA) in a small study. More frequent at-home use of the system, whose harness supports a child’s weight,…
In adults with spinal muscular atrophy (SMA), changes in the bloodstream in the levels of a protein called LARGE1 matched treatment responses to Spinraza (nusinersen), a study suggested. Further, LARGE1 levels in the cerebrospinal fluid (CSF) — the liquid that surrounds the brain and spinal cord — were also…
