neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2025-6-3-160-171cjvzdwneurojour-196Research ArticleОБЗОРЫREVIEWОбзор подходов к проведению скрининга на спинальную мышечную атрофию в различных странахThe review of approaches to screening for spinal muscular atrophy in various countrieshttps://orcid.org/0000-0002-9918-9565ВоронинСергей ВладимировичVoroninSergey V.

Канд. мед. наук, гл. врач, доцент кафедры биохимической генетики и наследственных болезней обмена веществ ФГБНУ «МГНЦ», Москва, Россия

e-mail: voroninsvvlad@mail.ru 

PhD (Medicine), chief physician, associate professor, Department of biochemical genetics and hereditary metabolic diseases, Research Centre for Medical Genetics, Moscow, 115522. Russian Federation

e-mail: voroninsvvlad@mail.ru 

voroninsvvlad@mail.ruhttps://orcid.org/0000-0001-7261-3461МухортоваПолина АлексеевнаMukhortovaPolina A.

Гл. спец. отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении ФГБУ «ЦЭККМП» Минздрава России, 109028, Москва, Россия

e-mail: muhortova@rosmedex.ru

Chief specialist, Department of methodological support of health technology assessment, Center for Healthcare Quality Assessment and Control, Moscow, 109028, Russian Federation

e-mail: muhortova@rosmedex.ru

muhortova@rosmedex.ruhttps://orcid.org/0009-0001-7817-5180СлабиковаАлександра АлексеевнаSlabikovaAlexandra A.

Ведущ. специалист отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении ФГБУ «ЦЭККМП» Минздрава России, 109028, Москва, Россия

e-mail: slabikova@rosmedex.ru

Leading specialist, Department of methodological support of health technology assessment, Center for Healthcare Quality Assessment and Control, Moscow, 109028, Russian Federation

e-mail: slabikova@rosmedex.ru

slabikova@rosmedex.ruhttps://orcid.org/0000-0003-1581-0703ОмельяновскийВиталий ВладимировичОmelyanovskiyVitaliy V.

Доктор мед. наук, профессор; ген. директор ФГБУ «ЦЭККМП» Минздрава России, 109028, Москва, Россия

e-mail: vvo@rosmedex.ru

DSc (Medicine), professor, general director, Center for Healthcare Quality Assessment and Control, Moscow, 109028, Russian Federation; Russian Medical Academy of Continuous Professional Education, 125993 Moscow, Russian Federation

e-mail: vvo@rosmedex.ru

vvo@rosmedex.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования Российской ФедерацииРоссияResearch Centre for Medical GeneticsRussian FederationФГБУ «Центр экспертизы и контроля качества медицинской помощи» Министерства здравоохранения Российской ФедерацииРоссияCenter for Healthcare Quality Assessment and ControlRussian FederationФГБУ «Центр экспертизы и контроля качества медицинской помощи» Министерства здравоохранения Российской Федерации; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Министерства здравоохранения Российской ФедерацииРоссияCenter for Healthcare Quality Assessment and Control; Russian Medical Academy of Continuous Professional EducationRussian Federation20252611202563160171Copyright © Воронин С.В., Мухортова П.А., Слабикова А.А., Омельяновский В.В., 20252025Воронин С.В., Мухортова П.А., Слабикова А.А., Омельяновский В.В.Voronin S.V., Mukhortova P.A., Slabikova A.A., Оmelyanovskiy V.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/196

Цель статьи — представить актуальный статус и результаты программ неонатального скрининга (НС) на спинальную мышечную атрофию (СМА), а также выполнить сравнительный анализ подходов к проведению НС, реализуемых в России и ряде зарубежных стран. СМА — одно из наиболее распространённых наследственных нервно-мышечных заболеваний, приводящее к ранней гибели пациентов детского возраста. В мировой практике наблюдается тенденция к расширению национальных программ НС и включению в них диагностики СМА. Ключевыми этапами в выявлении СМА являются первичное определение пациентов высокого риска методом количественной ПЦР и дальнейшая подтверждающая диагностика, наиболее часто проводимая методом MLPA. По результатам анализа пилотных проектов НС на СМА в мире, наибольшая распространённость заболевания достигала 18,71 случая на 100 тыс. новорождённых и была выявлена в Японии (префектура Хёго). В европейских странах наибольшая распространённость СМА определялась в Италии, Германии, Испании (Валенсия). В России, согласно результатам расширенного НС, распространённость СМА составила 9,5 на 100 тыс. обследованных новорождённых. Появление эффективной терапии патогенетического действия предопределяет целесообразность выявления заболевания на его пресимптоматической стадии для достижения лучших результатов по клинически значимым исходам в долгосрочной перспективе. В настоящий момент на территории России зарегистрировано 3 лекарственных препарата патогенетического действия: нусинерсен, рисдиплам и онасемноген абепарвовек, что подтверждает значимость включения СМА в программу НС.

Участие авторов

Участие авторов:Воронин С.В. — разработка концепции и структуры обзора, научное редактирование текста;Мухортова А.А. — сбор и анализ данных, интерпретация результатов, написание разделов обзора;Слабикова А.А. — разработка концепции и структуры обзора, анализ литературы по теме, написание разделов обзора;Омельяновский В.В. — научное редактирование текста.Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов.

Поступила 22

Поступила 22.07.2025Принята к печати 28.08.2025Опубликована 31.10.2025

The purpose of this article is to provide an up-to-date status and outcomes of neonatal screening programs for spinal muscular atrophy (SMA) undertaken in the Russian Federation and other countries, as well as to conduct comparative analysis of these approaches. SMA is one of the most common hereditary neuromuscular disorders that leads to the death in early age. Globally, there is an increasing trend toward incorporating SMA diagnostics into national neonatal screening programs. The key key stages of the SMA diagnostics include the initial identification of high-risk patients using quantitative PCR, followed by confirmatory diagnostics, commonly performed by MLPA. Analyses of global pilot newborn screening projects worldwide have shown the highest incidence of SMA to be 18.71 cases per 100 000 newborns in Japan (Hyōgo Prefecture). In Europe, the greatest incidence was documented in Italy, Germany, and Spain (Valencia). According to the results of expanded neonatal screening conducted in the Russian Federation the SMA prevalence was 9.5 per 100 000 screened newborns. The availability of effective disease-modifying therapies underscores the importance of identifying SMA at the presymptomatic stage to achieve better outcomes in terms of clinically meaningful long-term endpoints. Nowadays there are three disease-modifying drugs that are approved in the Russian Federation: nusinersen, risdiplam, and onasemnogene abeparvovec, which confirms the importance of inclusion neonatal screening for SMA in national neonatal screening program in the Russian Federation.

Contribution

Contribution:Voronin S.V. — concept and design, editing;Mukhortova P.A. — writing the text, editing;Slabikova A.A. — concept and design, writing the text, editing;Omelyanovskiy V.V. — editing.All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding

Funding. The study had no sponsorship.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Received

Received: July 27, 2025Accepted: August 28, 2025Published: October 31, 2025

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Dis. 2023; 10(1): 55–65. https://doi.org/10.3233/jnd-221577Фонд Круг Добра. Расширенный неонатальный скрининг в 2023-м году помог выявить и обеспечить уже 100 новорожденных со СМА. Available at: https://фондкругдобра.рф/расширенный-неонатальный-скрининг-в-2023/ Дата обращения: 30.07.2025The «Circle of Kindness» Foundation. Expanded neonatal screening in 2023 helped to identify and provide for 100 newborns with SMA. Available at: https://фондкругдобра.рф/расширенный-неонатальный-скрининг-в-2023/ (in Russian) Accessed July 30, 2025

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