Gene therapy for spinal muscular atrophy.

Abstract

To cite: Gowda VL, Jungbluth H, Wraige E. Arch Dis Child Educ Pract Ed Epub ahead of print: [please include Day Month Year]. doi:10.1136/archdischild2023325359 © Author(s) (or their employer(s)) 2023. No commercial reuse. See rights and permissions. Published by BMJ. INTRODUCTION Spinal muscular atrophy (SMA) is a severe neurodegenerative condition resulting from recessive mutations in the SMN1 gene and insufficient survival motor neuron (SMN) protein production. Lack of SMN protein causes irreversible degeneration of lower motor neurons and consequential muscle atrophy and weakness. Onasemnogene abeparvovec, marketed under the name Zolgensma, directly replaces the SMN1 gene using a nonreplicating, nonpathogenic modified adenoassociated virus serotype9 (AAV9). In this article, we outline the patient selection process for treatment with onasemnogene abeparvovec, with some illustrative clinical examples.