Interpretation of the "European consensus statement on gene therapy for spinal muscular atrophy"
Ma Xiuwei, Feng Zhichun
Department of Pediatric Medicine, the Seventh Medical Center of Chinese PLAGeneral Hospital, Faculty of Pediatrics, the Chinese PLA General Hospital, Beijing 100700, China
Abstract: 【Abstract】Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder primarily caused by mutations in the survival motor neuron 1 gene (SMN1). It is characterized by progressive muscle weakness and atrophy, and remains the leading cause of fatal genetic disease in children under 2 years ofage. Three disease-modifying therapies have significantly altered the disease progression and outcomes for children with severe SMA, especially when administered presymptomatically. Among these, onasemnogene abeparvovec is an SMN1 gene replacement therapy based on adeno-associated virus 9 (AAV9). In 2020, the European Neuromuscular Disorders Group developed the " European consensus statement on gene therapy forspinal muscular atrophy", which was updated in 2024. The consensus addresses key issues such as the timingof medication with gene therapy, weight and age of children, and combination therapies. This article interpretsthe key points of the two consensus to provide a reference for gene therapy in SMA of children in China.
2025, Vol. 13 
