Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive,
neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor …

Currently, there are about 7000 identified rare diseases, together affecting 10% of the
population. However, fewer than 6% of all rare diseases have an approved treatment option …

Importance This ongoing study assesses long-term safety and durability of response in
infants with spinal muscular atrophy (SMA) type 1 after dosing with onasemnogene …

Abstract Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in
SMN1 and results in the loss of motor neurons and progressive muscle weakness. The …

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

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

Background Given the novelty of gene replacement therapy with onasemnogene
abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for …

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 …

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

Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor
neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in …