News

Researchers have developed and validated four new cell lines derived from four patients with spinal muscular atrophy (SMA) with lower extremity predominance (SMA-LED) that can be used as a tool in studies of this rare form of spinal muscular atrophy. With the characteristics of the patient it was…

Up to 4.5 years of Spinraza (nusinersen) treatment led to meaningful improvements in motor function in adolescents and adults with spinal muscular atrophy (SMA), according to a medical records analysis. “[Spinraza] was effective in long-term follow-up,” researchers wrote. Noting a dearth of data on Spinraza’s long-term effectiveness among…

Spinraza (nusinersen) continues to show sustained efficacy in improving motor function in infants and toddlers with spinal muscular atrophy (SMA), according to newly released interim data from the SHINE study. The greatest benefits were among children who began being treated with Spinraza before they were 10 months old.

A delayed diagnosis in spinal muscular atrophy (SMA) may occur in many cases due to the absence of clinical suspicion of the rare genetic disorder, an interview-based study concluded. In particular, treating physicians of pediatric patients often disregarded or misinterpreted signs reported by parents, leading to diagnostic delays, the…

Children with spinal muscular atrophy (SMA) who have lower levels of an inflammatory protein called interleukin-8 (IL-8) in the fluid surrounding the brain and spinal cord tend to respond better to treatment with Spinraza (nusinersen), a new study suggests. The findings indicate that IL-8 is a better predictor of…

Among adults with spinal muscular atrophy (SMA), men show signs of greater disease severity than women, particularly as young adults, according to a recent study. For patients with SMA type 3, a greater proportion of women were able to maintain their ability to walk compared with men. “Gender should…

After two years of treatment with Evrysdi (risdiplam), most babies with spinal muscular atrophy (SMA) type 1 in the FIREFISH clinical trial are still alive without a need for permanent ventilation, and many of the youngsters are showing continual improvements in motor development. The results were published in …

Continued treatment with apitegromab, designed to strengthen muscles, led to stabilization or improvement in measures of fatigue and life quality for children and young adults with types 2 and 3 spinal muscular atrophy (SMA), according to new data from the TOPAZ clinical trial. According to apitegromab’s developer…

Diagnostic testing company Ambry Genetics has launched a reproductive health program to increase access to carrier and prenatal screening for genetic disorders such as spinal muscular atrophy (SMA). The Comprehensive Assessment Risk and Education (CARE) program seeks to enhance the availability of carrier screening and noninvasive…

Children with spinal muscular atrophy (SMA) switching from Spinraza (nusinersen) to Evrysdi (risdiplam) are generally optimistic about the switch as are their caregivers, according to a new study. The report, “How children and caregivers viewed the change from nusinersen to risdiplam for treating spinal…