The Muscular Dystrophy Association (MDA) has awarded $17 million among 70 new grants toward neuromuscular disease research, including $510,000 to two projects focused on spinal muscular atrophy (SMA). “The Muscular Dystrophy Association continues to fund the most innovative research that will lead to cures for a range of…
New protein biomarkers that can distinguish between the different types of spinal muscular atrophy (SMA) were identified in a recent study. According to researchers, the discovery supports further investigation to determine their utility as biomarkers for patient classification, monitoring treatment effectiveness, and identifying severity-specific treatments. Findings were detailed in…
Respiratory muscle training in spinal muscular atrophy (SMA) has the potential to stabilize or improve breathing function, a study has found, although the findings need to be substantiated by further research. In the study, adults and children with SMA demonstrated a dose-dependent increase in breathing muscle fatigue using a…
Muscle fasciculations, or twitches, in adolescents and adults with later onset forms of spinal muscle atrophy (SMA) were detected best with a muscle ultrasound, a study concluded. Muscle ultrasound combined with a physical examination is useful for screening adolescents and adults with weakness in muscles closest to the center…
Two years of training with a wearable cyborg hybrid assistive limb (HAL), combined with leuprorelin therapy, markedly improved the walking abilities of a man with spinal and bulbar muscular atrophy (SBMA), a case study reports. “This report describes the first successful case in the history of SBMA treatment in…
Scientists have revealed specific alterations to the neuromuscular junction (NMJ) — the place where nerves connect to the muscle they control — in fast-twitch muscle fibers in two mouse models of spinal and bulbar muscular atrophy (SBMA). The team also provided evidence for metabolic impairment and muscle fiber atrophy…
Two years of treatment with the investigational therapy apitegromab continued to improve motor function in Spinraza-treated children and young adults with later-onset spinal muscular atrophy (SMA) who cannot walk, according to new extension data of the Phase 2 TOPAZ trial. The therapy’s developer, Scholar Rock, is also…
MicroRNAs isolated from the bloodstream of patients with infant-onset spinal muscular atrophy (SMA) type 1 before treatment were related to functional responses to Spinraza (nusinersen) after six months of therapy, a study suggested. Researchers said these microRNAs may be potential biomarkers to predict or monitor patients’ responses to…
A new modeling study predicts that higher doses of Spinraza (nusinersen) may improve its effectiveness compared with the approved 12 mg dose. The study used data from two clinical trials that evaluated the disease-modifying therapy in infants with spinal muscular atrophy (SMA). “The [pharmalogical] model indicates that the…
Combining two clinical assessment tools helped recognize early neurological signs in infants with spinal muscular atrophy (SMA) who were identified through a newborn screening program, a study suggested. Even in the absence of obvious clinical signs, infants typically defined as presymptomatic may have minimal signs, such as poor muscle…