neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2025-6-3-133-139bdbbqmneurojour-193Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL INVESTIGATIONSОпыт терапии пациентов с миодистрофией Дюшенна, вызванной нонсенс-мутациейThe experience of treating patients with Duchenne myodystrophy caused by nonsense mutationhttps://orcid.org/0009-0005-2414-8573НахушеваФатима ИсуфовнаNakhushevaFatima I.

Врач-невролог, зав. 3-м психоневрологическим отд. ГБУЗ МО «НИКИ детства Минздрава Московской области», 141009, г. Мытищи, Россия

e-mail: nakhusheva@mail.ru 

Neurologist, head, 3rd Neuropsychiatric department, Research Clinical Institute of Childhood, Mytishchi, 141009, Russian Federation

e-mail: nakhusheva@mail.ru

nakhusheva@mail.ruhttps://orcid.org/0009-0007-8965-4623СеровАртем ВалерьевичSerovArtem V.

Врач-невролог ГБУЗ МО «НИКИ детства Минздрава Московской области», 141009, г. Мытищи, Россия

e-mail: artem.serov@gmail.com

Neurologist, Research Clinical Institute of Childhood, Mytishchi, 141009, Russian Federation

e-mail: artem.serov@gmail.com

artem.serov@gmail.comhttps://orcid.org/0009-0001-7242-6073ЛапочкинОлег ЛонгиновичLapochkinOleg L.

Канд. мед. наук, врач-невролог, зам. директора по международному сотрудничеству ГБУЗ МО «НИКИ детства Минздрава Московской области», 141009, г. Мытищи, Россия

e-mail: ollapochkin@yandex.ru

PhD (Medicine), neurologist, Deputy Director for International Cooperation, Research Clinical Institute of Childhood, Mytishchi, 141009, Russian Federation

e-mail: ollapochkin@yandex.ru

ollapochkin@yandex.ruГБУЗ «Научно-исследовательский клинический институт детства» Минздрава Московской областиРоссияResearch Clinical Institute of Childhood, Ministry of Health of Moscow RegionRussian Federation20252611202563133139Copyright © Нахушева Ф.И., Серов А.В., Лапочкин О.Л., 20252025Нахушева Ф.И., Серов А.В., Лапочкин О.Л.Nakhusheva F.I., Serov A.V., Lapochkin O.L.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/193Введение

Введение. Цель исследования — оценка динамики двигательной активности с помощью сбора анамнестических данных и динамического наблюдения за пациентами с миодистрофией Дюшенна, вызванной нонсенс-мутацией (нмМДД), в Московской области на фоне патогенетической терапии препаратом аталурен.

Материалы и методы

Материалы и методы. Динамическое наблюдение 13 пациентов с нмМДД осуществляли на базе Центра детской психоневрологии Научно-исследовательского клинического института детства Московской области. В данном исследовании проводился ретроспективный анализ анамнестических данных, двигательной активности пациентов по тестам «Северная Звезда» (NSAA) и 6-минутной ходьбы (6MWT). Для оценки эффективности терапии препаратом аталурен было проведено непрямое сравнение с данными из регистров STRIDE и CINRG DNHS.

Результаты

Результаты. В исследуемой группе пациентов возраст начала самостоятельной ходьбы составил 15,7 ± 4,5 мес, возраст установки диагноза — 60,2 ± 21,7 мес (5,0 ± 1,8 года). 92% пациентов (n = 12) получают глюкокортикостероиды (ГКС), 5 из них — преднизолон, 7 — дефлазакорт. Средний возраст начала приёма ГКС составил 7,1 ± 0,9 года. Возраст инициации патогенетической терапии препаратом аталурен составил 7,0 ± 1,3 года. Длительность наблюдения пациентов варьировалась от 1,5 до 8 лет. Данные по пациентам с верифицированными результатами спирометрии (46%) и эхокардиографии (92%) за последние 12 мес распределились следующим образом: снижения фракции выброса левого желудочка не зарегистрировано ни у одного пациента, снижение форсированной жизненной ёмкости лёгких лёгкой степени наблюдалось у 1 пациента. Регулярные реабилитационные мероприятия получают 8 (62%) пациентов. Для оценки двигательных функций использовали тесты NSAA (n = 10) и 6MWT (n = 8). При анализе данных с помощью 6MWT наблюдалось увеличение пройденного расстояния у 6 (75%) пациентов, уменьшение — у 2 (25%). Результаты теста NSAA: у 2 (20%) пациентов отмечается улучшение, у 6 (60%) — стабилизация состояния, у 2 (20%) — ухудшение (в том числе у 1 — потеря амбулаторности).

Заключение

Заключение. Своевременная диагностика и лечение пациентов в соответствии с клиническими рекомендациями играют ключевую роль в успешной терапии пациентов с МДД. Патогенетическая терапия препаратом аталурен замедляет скорость прогрессирования заболевания и улучшает выживаемость пациентов с нмМДД.

Соблюдение этических стандартов. Законные представители пациентов дали добровольное информированное согласие на обработку персональных данных.

Участие авторов

Участие авторов:Нахушева Ф.И. — концепция и дизайн статьи, написание текста, редактирование;Серов А.В. — концепция и дизайн статьи, написание текста, редактирование;Лапочкин О.Л. — редактирование.Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Нахушева Ф.И., Лапочкин О.Л. являются лекторами, получающими гонорары от фармацевтической компании ООО «ПиТиСи Терапьютикс».

Поступила

Поступила: 20.08.2025Принята к печати: 10.09.2025Опубликована: 31.10.2025

Introduction

Introduction. Aim. Assessment of the trend in the motor activity by collecting anamnestic data and dynamic monitoring of patients with Duchenne myodystrophy caused by nonsense mutation (nmMDD) in the Moscow region and receiving pathogenetic therapy with ataluren.

Materials and methods

Materials and methods. Dynamic monitoring of thirteen nmMDD patients was carried out on the basis of the Center for Pediatric Neuropsychiatry (CDPN) of the Scientific Research Clinical Institute of Childhood of the Moscow region. In this study, a retrospective analysis of anamnestic data, motor activity of patients according to the tests “North Star” (NSAA), and 6-minute walk (6MWT) was performed. To evaluate the effectiveness of ataluren therapy, an indirect comparison was performed with data from the STRIDE and CINRG DNHS registries.

Results

Results. In the study group of patients (n = 13), the age of onset of independent walking was 15.7 ± 4.5 months, and the age of diagnosis was 60.2 ± 21.7 months (5.0 ± 1.8 years). 92% of patients (n = 12) receive glucocorticosteroids (GCS), 5 of them take prednisone, and 7 take deflazacort. The average age at the start of taking GCS was 7.1 ± 0.9 years. The age of initiation of pathogenetic therapy with ataluren was 7.0 ± 1.3 years. The duration of patient follow-up ranged from 1.5 to 8 years. Data on patients with verified results of spirometry (46%) and echocardiography (92%) over the past 12 months were distributed as follows: no decrease in left ventricular ejection fraction was recorded, a decrease in forced pulmonary vital capacity of mild degree was observed in 1 patient. 8 (62%) patients receive regular rehabilitation measures. The NSAA test (n = 10) and the 6-minute walking test (n = 8) were used to assess motor functions. When analyzing the data using the 6-minute walk test, an increase in the distance traveled was observed in 6 (75%) patients, and a decrease in 2 (25%). The results of the NSAA test showed improvement in 2 (20%) patients, stabilization in 6 (60%), and deterioration in 2 (20%) (including loss of outpatient care in 1).

Conclusion

Conclusion. Timely diagnosis and treatment of patients in accordance with clinical guidelines play a key role in the successful treatment in DMD patients. Pathogenetic therapy with ataluren slows down the rate of disease progression and improves the survival nmMDD patients.

Compliance with ethical standards. Voluntary informed consent was obtained from the legal representatives of all patients.

For correspondence

For correspondence: Fatima I. Nakhusheva, e-mail nakhusheva@mail.ru

Contribution

Contribution:Nakhusheva F.I. — concept and design of the article, text writing, editing;Serov A.V. — concept and design of the article, text writing, editing;Lapochkin O.L. — editing.All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Conflict of interest

Conflict of interest. Nakhusheva F.I., Lapochkin O.L. are lecturers receiving honoraria from the pharmaceutical company PTC Therapeutics LLC.

Funding

Funding. The study had no sponsorship.

Received

Received: August 20, 2025Accepted:September 9, 2025Published: October 31, 2025

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