Author Archives: Lindsey Shapiro PhD

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…

CANbridge Pharmaceuticals is planning to ask the U.S. Food and Drug Administration for permission to launch, by the end of 2024, clinical trials of its second-generation gene therapy candidate for spinal muscular atrophy (SMA). That request — for clearance for first-in-human studies — will come in the…

Evrysdi (risdiplam) may be associated with longer survival and greater motor improvements than Spinraza (nusinersen) in children with spinal muscular atrophy (SMA) type 1, according to an indirect comparison of clinical trial data. Sponsored by Roche — which markets Evrysdi — the analysis “leverages the longest…

Most spinal muscular atrophy (SMA) patients with four or more copies of the backup SMN2 gene achieved or maintained motor milestones after treatment with Zolgensma (onasemnogene abeparvovec), according to real-world data from the RESTORE patient registry. The one-time gene therapy from Novartis was also found safe in…

Treatment with apitegromab for two years continues to stabilize or improve measures of motor function, fatigue, and life quality in children and young adults with spinal muscular atrophy types 2 and 3 who are not able to walk. That’s according to data from the TOPAZ clinical…

Motor function is still stable or improved among people with spinal muscular atrophy (SMA) types 2 and 3 after four years of treatment with Evrysdi (risdiplam), according to updated results from the SUNFISH clinical trial. Patients and caregivers also reported continuous improvement or stabilization in the level…

The one-time gene therapy Zolgensma (onasemnogene abeparvovec) will now be routinely accessible at low or no cost to presymptomatic infants in England who are genetically predisposed to spinal muscular atrophy (SMA). Per updated recommendations from the country’s National Institute for Health and Care Excellence (NICE), this…