Author Archives: Lindsey Shapiro PhD

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…

Muscle abnormalities observed with ultrasound imaging correlated with motor function in people with spinal muscular atrophy (SMA) in a recent study. While the findings varied somewhat by muscle group and SMA type, ultrasound data generally indicated SMA patients exhibited muscle atrophy and signs of fat and connective tissue…

More than a year of treatment with Spinraza (nusinersen) did not result in clinically meaningful changes in cognition for adults with spinal muscular atrophy (SMA), according to a recent study. While patients did not exhibit widespread cognitive deficits, abnormal performance in certain domains was observed. Scores across…

Researchers have developed a new mouse model that exhibits the features of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, or SMA-PME — a rare type of the rare disorder characterized by seizures that typically start during childhood. The mice, which exhibited motor and sensory impairments, were found…

The adoption of a newborn screening (NBS) program for spinal muscular atrophy (SMA) in England would reduce healthcare costs and boost the number of healthy years a patient can live, according to a recent cost-effectiveness analysis. Researchers believe such a program could capture most cases of SMA in…