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

The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

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), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …

This is the second half of a two-part document updating the standard of care
recommendations for spinal muscular atrophy published in 2007. This part includes updated …

Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …

Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes | Pediatrics | American
Academy of Pediatrics Skip to Main Content Disclaimer » Advertising AAP logo Search Close …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …