Impact of gene therapy on respiratory status in children with spinal muscular atrophy

Dr Yeliz Koc, paediatric pulmonologist at Medipol University Hospital, provides insights into a study evaluating the effectiveness of Zolgensma gene therapy on the respiratory status of children with spinal muscular atrophy type 1. The discussion highlights the analysis of 160 patients, comparing their respiratory outcomes before and after gene therapy, and dividing the cohort into two groups: children below two years and those older than two years. Dr Koc explains that, while there was no statistically significant change in invasive mechanical ventilation requirements after therapy, the need for respiratory support decreased, and a greater number of patients became independent of invasive ventilation. Additionally, the study tracked the number of patients able to achieve spontaneous breathing after gene therapy. Dr Koc emphasises the clinical importance of these findings and suggests the need for further randomized controlled trials to confirm the results. This interview took place at the RCPCH conference 2025 in Glasgow, Scotland.