Author Archives: Steve Bryson PhD

Unusual mutations in the SMN1 gene, the underlying cause of spinal muscular atrophy (SMA), were detected in two young patients using ultra-long read sequencing (ultra-LRS), a method to analyze large segments of DNA. “Our study highlights the importance of ultra-LRS in the clinical application of SMA,” the researchers…

A single gene-editing treatment that converts the SMN2 gene into a functioning copy of SMN1 increased levels of the SMN protein that is lacking in spinal muscular atrophy (SMA), bringing better motor function to a mouse model of the disease, a study reported. Combined with Spinraza (nusinersen),…

Older children with spinal muscular atrophy (SMA) type 2 or 3, ages 2–5, given a single injection of Zolgensma into the spinal canal, showed clinically meaningful gains in motor function after one year, according to final data from the STRONG study. Such gains also were significantly better…

High doses of Evrysdi (risdiplam), an approved daily therapy for spinal muscular atrophy (SMA), affected the development of sperm in rats and monkeys, a review of 14 preclinical safety studies reported. No damage was evident in immature sperm derived from stem cells, and changes affecting sperm ended…

The motor function of children with spinal muscular atrophy (SMA) improves significantly in the early stages of treatment with Spinraza (nusinersen), namely within its two-month loading dose period, a study reported. No changes in nutritional status — as assessed by weight — were seen then, however, likely…

Spinraza (nusinersen) treatment is safe in children with spinal muscular atrophy (SMA) and does not cause unwanted immune responses, a study confirmed. The study, involving case reports on three children with SMA who developed elevated levels of white blood cells after Spinraza treatment, also found no changes in…

A significant proportion of people with spinal muscular atrophy (SMA) do not remain on Spinraza (nusinersen) or receive treatment injections as prescribed, according to a U.S. insurance claims analysis. “SMA can be treated, but it is important that patients receive their scheduled doses of medicine as prescribed…

Despite its well-reported benefits in motor function, the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) may not be as effective at preventing or easing breathing problems at night in young children with spinal muscular atrophy (SMA), according to a small real-world study. Nighttime breathing problems were found to occur in…

The use of long-term breathing help, or ventilation, has markedly increased among children with spinal muscular atrophy (SMA) type 1 and other conditions since 2008, according to a survey of ventilation centers in the U.K. This increase coincided with the expanded use of various types of non-invasive masks…

UNITY Screen, a noninvasive prenatal blood test, can provide an accurate personalized risk assessment for hereditary diseases such as spinal muscular atrophy (SMA) in fetuses, according to a recent study. Offered by BillionToOne in the U.S., the single-gene noninvasive prenatal test (sgNIPT) included in UNITY Screen…