Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by
motor neuron loss, resulting in progressive weakness. SMA is notable in the health care …

Abstract SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to
investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic …

Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular
atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial …

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying
treatments have recently been approved and early treatment has been related to a better …

Background Spinal muscular atrophy (SMA) is the most common neurodegenerative
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …

Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …

Background Spinal muscular atrophy (SMA) is a rare and devastating condition for which
new disease-modifying treatments have recently been approved. Given the increasing …

Gene replacement and pre-mRNA splicing modifier therapies represent breakthrough gene
targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but …

Background In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn
screening has been proposed as a gateway to facilitate expedient diagnosis and access to …