News

AAN 2023: Evrysdi effective in already treated SMA patients in trial

Treatment with Evrysdi (risdiplam) in spinal muscular atrophy (SMA) patients who previously received other therapies was found to safely stabilize motor function and lead to slight improvements in arm function, new clinical trial data show. These results occurred “irrespective of previous treatment,” the researchers wrote, adding that “no…

Study supports mandatory newborn screening in Japan

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…

Genetic sequencing assay for rare disease diagnosis launched

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 pioneer…

Unusual SMN1 mutations detected with ultra-long DNA sequencing

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…