Author Archives: Lindsey Shapiro PhD

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…

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…

Alterations to the composition of intestinal microbes — called the gut microbiome — in spinal muscular atrophy (SMA) patients may contribute to certain metabolic disorders that are commonly seen in patients, according to a recent study. Scientists identified a number of altered gut bacteria in children with SMA…

Centogene has launched a new genetic sequencing assay to support faster and more accurate diagnoses of rare diseases, such as spinal muscular atrophy (SMA). Called NEW CentoGenome, the assay combines advanced genetic sequencing with clinical information housed in the company’s rare disease Biodatabank. “As a…

Akron Children’s Hospital in Ohio has been awarded $1.3 million to optimize palliative care practices for children living with chronic diseases such as spinal muscular atrophy (SMA). The funding comes from the National Institute of Nursing Research (NINR), part of the U.S. National Institutes of Health (NIH). Palliative…