Consensus on gene replacement therapy for the treatment for spinal muscular atrophy (version № 3)

The article represents an updated consensus of russian experts on the use of onasemnogene abeparvovec (Zolgensma®) gene replacement therapy in patients with spinal muscular atrophy 5q. Due to the introduction of expanded neonatal screening for sma in Russia starting in 2023 and the accumulation of clinical experience in the use of gene replacement therapy, patient selection criteria and management algorithms have been revised. The main provisions of the consensus include the expansion of indications for prescribing the drug regardless of the number of copies of the SMN2 gene, algorithms for managing patients with an increased titer of antibodies to AAV9 using bridge therapy, detailed recommendations for monitoring and correcting adverse events in the postinfusion period. Special attention is paid to the management of patients with hyperbilirubinemia and cytomegalovirus infection, the criteria for switching to gene replacement therapy from other types of pathogenetic therapy, as well as the possibilities of using an intrathecal form of gene replacement therapy in children over 6 months of age and adult patients. The consensus provides practical recommendations for clinicians to optimize spinal muscular atrophy therapy in the context of modern treatment options.

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