Consensus on gene therapy for spinal muscular atrophy in Taiwan.

Abstract

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by biallelic mutations in the SMN1 gene, leading to progressive motor neuron degeneration, muscle weakness and atrophy due to survival motor neuron (SMN) protein deficiency. The Taiwan Child Neurology Society convened 17 pediatricians with extensive clinical experience in SMA to establish a consensus on gene therapy for SMA in Taiwan. Epidemiological data indicate that approximately one in 48 individuals in Taiwan is an SMA carrier, and one in 17,181 newborns is affected. The advent of three FDA-approved disease-modifying therapies-onasemnogene abeparvovec, nusinersen, and risdiplam-has markedly improved therapeutic prospects. Early intervention in presymptomatic infants significantly enhances motor development and the ability to walk independently. In 2023, onasemnogene abeparvovec was officially included in Taiwan's National Health Insurance, reducing the financial burden on patients and improving prognosis. This consensus recommends incorporating SMA into the newborn screening program for early diagnosis and prompt treatment, and emphasizes that gene therapy should be evaluated based on SMN2 copy number and clinical condition. Presymptomatic treatment is critical for optimal motor outcomes, and multidisciplinary care teams are essential for comprehensive long-term management.