neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2026-7-1-21neurojour-217Research ArticleИНФОРМАЦИОННЫЕ МАТЕРИАЛЫINFORMATIONAL MATERIALSКонсенсус в отношении генозаместительной терапии для лечения спинальной мышечной атрофии (версия № 3)Consensus on gene replacement therapy for the treatment for spinal muscular atrophy (version № 3)РедакционнаястатьяEditorialArticle202629042026716–18Copyright © Редакционная с., 20262026Редакционная с.Editorial A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/217

Статья представляет собой обновлённый консенсус российских экспертов по применению генозаместительной терапии препаратом онасемноген абепарвовек (Золгенсма®) у пациентов со спинальной мышечной атрофией 5q.  Благодаря внедрению расширенного неонатального скрининга на спинальную мышечную атрофию в России с 2023 года и накоплению клинического опыта применения генозаместительной терапии были пересмотрены критерии отбора пациентов и алгоритмы ведения. Основные положения консенсуса включают расширение показаний к назначению препарата независимо от количества копий гена SMN2, алгоритмы ведения пациентов с повышенным титром антител к AAV9 с использованием мост-терапии, детальные рекомендации по мониторингу и коррекции нежелательных явлений в постинфузионном периоде. Особое внимание уделено тактике ведения пациентов с гипербилирубинемией и цитомегаловирусной инфекцией, критериям переключения на генозаместительную терапию с других видов патогенетической терапии, а также возможностям применения интратекальной формы генозаместительной терапии у детей старше 6 месяцев жизни и взрослых пациентов. Консенсус предоставляет практические рекомендации для клиницистов по оптимизации терапии спинальной мышечной атрофии в современных условиях.

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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The authors declare that there are no conflicts of interest present.