Author Archives: Lindsey Shapiro PhD

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…

Evrysdi (risdiplam) safely stabilizes or improves motor function for most people with spinal muscular atrophy (SMA) types 1, 2, or 3, according to a new meta-analysis that reviewed more than a half-dozen studies of the approved therapy. The findings related to respiratory function were less consistent, however,…

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…

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…

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…

A growing number of young children with spinal muscular atrophy (SMA) type 1 who started taking Evrysdi (risdiplam) as babies are gaining the ability to sit, stand, and walk, according to four-year data from the FIREFISH clinical trial. No new deaths have been reported since the study’s…

Add-on treatment with Scholar Rock‘s muscle-targeted therapy apitegromab continues to stabilize or improve motor function for young spinal muscular atrophy (SMA) types 2 and 3 patients who entered the study unable to walk, according to a three-year update from the TOPAZ clinical trial and its…

Researchers have developed new patient-derived cell models of spinal muscular atrophy (SMA) caused by SMN1 mutations as well as the more rare spinal muscular atrophy with respiratory distress type 1 (SMARD1). The cells exhibited structural abnormalities consistent with SMA which could be rescued with gene therapies. Scientists believe the…