Steve Bryson, PhD,  science writer—

A pilot study describes how researchers successfully implemented a newborn genetic screening in Osaka, Japan, to identify infants with spinal muscular atrophy (SMA) as early as possible. No false-positive results occurred in about 23,000 samples screened in the study; after implementation, newborn screening detected one presymptomatic SMA infant who…

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 noted…

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), an…

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 than…

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 after…

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 because…

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 levels…

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 and…

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 as…

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 requires…