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 most…
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 to…
Scientists at The Jackson Laboratory — a U.S.-based biomedical research nonprofit — were granted $22.8 million by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH), for a novel method to develop gene editing therapies for neurological disorders, including spinal…
Current therapeutic approaches have helped to improve motor function in the majority of children with spinal muscular atrophy (SMA) type 1 in Spain, a study reports. The study, “Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children:…
Adults with spinal muscular atrophy (SMA) who start treatment with Spinraza (nusinersen) tend to see the most dramatic early improvement in muscle strength in the shoulders and upper arms, a new study suggests. The treatment also tended to improve thumb strength, which researchers note may be important for…
Spinraza (nusinersen) carries relatively few side effects and nearly halves the odds of children and adolescents with spinal muscular atrophy (SMA) having serious or fatal side effects compared with a placebo, according to a meta-analysis. The study, “Adverse events in the treatment of spinal muscular atrophy in…
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 the…
The overactivity of a specific signaling pathway may contribute to the abnormalities in clearing cellular waste that are commonly seen in spinal muscular atrophy (SMA), according to experiments with patient-derived cells. This known cell survival pathway, dubbed the ERK signaling pathway, exhibited increased activity in the cells, while its…
The Muscular Dystrophy Association (MDA) has opened the MDA Gene Therapy Support Network — a new program it’s dubbed GTx — to aid and educate families living with spinal muscular atrophy (SMA) or other neuromuscular diseases (NMDs) who may be considering a gene therapy as part of…
Children with spinal muscular atrophy (SMA) who are treated with Zolgensma (onasemnogene abeparvovec-xioi) tend to have more dramatic gains in motor function when it’s given earlier in the course of disease, a new study reports. The findings suggest the best improvements are seen among babies treated in the…
