Author Archives: Steve Bryson PhD

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…

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…

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…

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…

MicroRNAs isolated from people with spinal muscular atrophy (SMA) types 2 and 3 before treatment predicted eventual responses to Spinraza (nusinersen) therapy, a study suggested. The study, “Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III…

The stability and self-interacting ability of SMN, the protein that is abnormally low in people with spinal muscular atrophy (SMA), may impact disease severity in rare cases, a small study suggested. Based on their findings, the researchers said new treatment strategies “should be explored” to target these factors, and…

The stability and self-interacting ability of SMN, the protein that is abnormally low in people with spinal muscular atrophy (SMA), may affect disease severity in rare cases, a small study suggested. Based on their findings, the researchers said new treatment strategies “should be explored” to target these factors,…

A combined spinal muscular atrophy (SMA) therapy — one incorporating two treatments targeting different disease processes related to the SMN protein — showed improved efficacy over single treatments in a mouse model. The findings support further research into combination treatment strategies, the researchers said. A combined therapy could potentially…