Lindsey Shapiro, PhD,  science writer—

Researchers in Turkey have developed a new method for screening newborn blood samples for mutations associated with spinal muscular atrophy (SMA). Compared with standard techniques, the new method showed 100% accuracy for detecting SMA-positive and negative samples, they said. The scientists believe their approach, which is simpler and involves…

Children with spinal muscular atrophy (SMA) treated with Zolgensma (onasemnogene abeparvovec) used fewer healthcare resources and had lower medical costs than children on Spinraza (nusinersen), but they had higher SMA treatment costs, according to a recent U.S. analysis. Overall, healthcare costs for SMA patients using these disease-modifying…

Adults with spinal muscular atrophy (SMA) experience more health problems affecting a range of bodily systems compared with the general population, according to a U.S. healthcare claims analysis. A total of 30 conditions examined in the study, many of which are associated with older age in the general population,…

Spinraza (nusinersen) led to clinically meaningful motor improvements for three of six adults with spinal muscular atrophy (SMA) types 2 or 3 who were treated at a hospital in Japan. Other aspects, including respiratory and swallowing function, did not change considerably. “The distinct efficacy of [Spinraza] requires further…

Note: This article was updated Sept. 25 to clarify that respiratory declines were observed in patients with SMA types 2 and 3 and that the type of blood clots observed in Evrysdi-treated patients were deep vein thromboses. Evrysdi (risdiplam) safely stabilizes or improves motor function for most people…

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…

Children with spinal muscular atrophy (SMA) experience impaired health-related quality of life even when using disease-modifying therapies, according to a recent Swedish study. Still, over time on treatment, some patients experienced life quality gains, particularly those with SMA type 2. These improvements were largely related to improved…

Children diagnosed with spinal muscular atrophy (SMA) and started on Spinraza (nusinersen) as presymptomatic newborns safely continue to achieve motor milestones with no need for permanent ventilation after five years of treatment, updated data from the ongoing NURTURE trial show. For the majority of trial children with two…

A histone deacetylase (HDAC) enzyme inhibitor called AR42 was found to prolong survival and ease motor symptoms in a mouse model of spinal muscular atrophy (SMA). While scientists initially expected the experimental molecule to show benefits by helping to boost levels of the SMN protein that’s deficient in SMA,…