neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2024-5-2-79-89ypfabineurojour-137Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL INVESTIGATIONSПрименение препарата аталурен для лечения пациентов с мышечной дистрофией Дюшенна в реальной клинической практикеThe use of the drug ataluren for the treatment of patients with Duchenne muscular dystrophy in real clinical practicehttps://orcid.org/0000-0002-9697-500XПоповичСофия ГеоргиевнаPopovichSofia G.

Мл. науч. сотр., врач-невролог Центра детской психоневрологии ФГАУ «НМИЦ здоровья детей» Минздрава России, 119991, Москва, Россия

e-mail: popovich.sg@nczd.ru

MD, junior researcher, neurologist of the Center of child psychoneurology, National Medical Research Center for Children’s Health, Moscow, 111999, Russian Federation

e-mail: popovich.sg@nczd.ru

popovich.sg@nczd.ruhttps://orcid.org/0000-0002-9562-3774КузенковаЛюдмила МихайловнаKuzenkovaLudmila M.

Проф., доктор мед. наук, начальник Центра детской психоневрологии, зав. отделением психоневрологии и нейрореабилитации ФГАУ «НМИЦ здоровья детей» Минздрава России, 119991, Москва, Россия

e-mail: kuzenkova@nczd.ru

PhD, DSci., Prof., Head of the Center for Psychoneurology, Head of Department of Neuropsychiatry and Neurorehabilitation, National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation

e-mail: kuzenkova@nczd.ru

kuzenkova@nczd.ruhttps://orcid.org/0000-0002-8381-8793УвакинаЕвгения ВладимировнаUvakinaEvgeniya V.

Врач-невролог, мл. науч. сотр. Центра детской психоневрологии ФГАУ «НМИЦ здоровья детей» Минздрава России, 119991, Москва, Россия

e-mail: uvakina.ev@nczd.ru

MD, junior researcher of the Center of child psychoneurology, National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation

e-mail: uvakina.ev@nczd.ru

uvakina.ev@nczd.ruhttps://orcid.org/0000-0001-6415-156XПодклетноваТатьяна ВладимировнаPodkletnovaTatyana V.

Канд. мед. наук, врач-невролог, ст. науч. сотр. Центра детской психоневрологии ФГАУ «НМИЦ здоровья детей» Минздрава России, 119991, Москва, Россия

e-mail: tvp80@mail.ru

MD, PhD, senior researcher of the Center for Child Psychoneurology of the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation

e-mail: tvp80@mail.ru

tvp80@mail.ruhttps://orcid.org/0000-0001-8562-6851КожевниковаОльга ВикторовнаKozhevnikovaOlga V.

Доктор мед. наук, начальник центра психоневрологии, зав. отделением психоневрологии и нейрореабилитации ФГАУ «НМИЦ здоровья детей» Минздрава России, 119991, Москва, Россия

e-mail: fd@nczd.ru

MD, PhD, DSci., Head of the Center of Psychoneurology, head of the Department of Psychoneurology and neurorehabilitation of the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation

e-mail: fd@nczd.ru

fd@nczd.ruhttps://orcid.org/0000-0001-9893-9291БушуеваТатьяна ВладимировнаBushuevaTatyana V.

Доктор мед. наук, вед. науч. сотр. ФГАУ «НМИЦ здоровья детей» Минздрава России, 119991, Москва, Россия

e-mail: tbushueva1@yandex.ru

MD, PhD, DSci., Leading Researcher of the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation

e-mail: tbushueva1@yandex.ru

tbushueva1@yandex.ruhttps://orcid.org/0000-0002-0709-1115ЗвонковаНаталья ГеоргиевнаZvonkovaNataliya G.

Канд. мед. наук, ст. науч. сотр. ФГАУ «НМИЦ здоровья детей» Минздрава России, доцент каф. педиатрии и детской ревматологии КИДЗ им. Н.Ф. Филатова ФГАОУ «Первый МГМУ им. И.М. Сеченова Минздрава России (Сеченовский Университет), 119435, Москва, Россия

e-mail: zvonkova@nczd.ru

MD, PhD, senior researcher, National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation; Associate Professor of the Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Child Health named after N.F. Filatov, First Moscow State Medical University named after I.M. Sechenov (Sechenov University), Moscow, 119435, Russian Federation

e-mail: zvonkova@nczd.ru

zvonkova@nczd.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s Health; First Moscow State Medical University named after I.M. Sechenov (Sechenov University)Russian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Минздрава России (Сеченовский Университет)РоссияNational Medical Research Center for Children’s HealthRussian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s HealthRussian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГБУ «Медико-генетический научный центр им. академика Н.П. Бочкова»РоссияNational Medical Research Center for Children’s Health; First Moscow State Medical University named after I.M. Sechenov (Sechenov University)Russian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Минздрава России (Сеченовский Университет)РоссияNational Medical Research Center for Children’s Health; First Moscow State Medical University named after I.M. Sechenov (Sechenov University)Russian Federation202416082024527989Copyright © Попович С.Г., Кузенкова Л.М., Увакина Е.В., Подклетнова Т.В., Кожевникова О.В., Бушуева Т.В., Звонкова Н.Г., 20242024Попович С.Г., Кузенкова Л.М., Увакина Е.В., Подклетнова Т.В., Кожевникова О.В., Бушуева Т.В., Звонкова Н.Г.Popovich S.G., Kuzenkova L.M., Uvakina E.V., Podkletnova T.V., Kozhevnikova O.V., Bushueva T.V., Zvonkova N.G.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/137Цель

Цель. Провести анализ анамнестических, клинических и параклинических показателей у пациентов с мышечной дистрофией Дюшенна (МДД), получающих патогенетическую терапию препаратом для коррекции нонсенс-мутации в гене dmd — аталурен (трансларна), оценить безопасность терапии и динамику двигательных нарушений в реальной клинической практике на фоне применения препарата.

Материалы и методы

Материалы и методы. В исследование были включены 24 пациента с МДД, получающие аталурен, находившиеся на госпитализации в Центре детской психоневрологии ФГАУ «НМИЦ здоровья детей» Минздрава России за период с января 2019 г. по февраль 2024 г. Проводили анализ анамнестических данных, наиболее часто встречающихся клинических проявлений и параклинических показателей, оценивали безопасность препарата по наличию серьёзных нежелательных явлений, приведших к отмене терапии, и эффективности лечения с использованием функциональных шкал двигательной активности: шкалы «Северная звезда» и теста 6-минутной ходьбы.

Результаты

Результаты. Возраст начала самостоятельной ходьбы составил 14,3 ± 2,6 мес, возраст дебюта заболевания — 3,3 ± 2,6 года, возраст обращения к врачу — 4,25 ± 2,00 года, возраст постановки диагноза — 5,3 ± 2,3 года, возраст начала приёма глюкокортикостероидов (ГКС) — 6,3 ± 1,8 года. ГКС в адекватной дозе и режиме принимали 13 (56%) пациентов. Нарушение когнитивных, эмоционально-волевых и поведенческих нарушений зарегистрированы у 17 (70,8%) пациентов, избыточная масса тела — у 6 (25%), тугоподвижность голеностопных суставов — у 9 (37,5%). Функция внешнего дыхания была проанализирована у 16 (66,6%) пациентов, из них у 1 мальчика выявлено её снижение. Ни у одного пациента не зарегистрировано серьёзное нежелательно явление, приведшее к прекращению приёма аталурена. При оценке эффективности лечения в группе пациентов до 7 лет (n = 11) у 10 (91%) детей зафиксированы улучшение или стабилизация состояния по данным теста 6-минутной ходьбы; у 6 (54,5%) — улучшение моторных навыков при анализе баллов по шкале «Северная звезда»; у 5 (45,5%) — стабилизация состояния. В группе пациентов старше 7 лет (n = 13) по данным теста 6-минтуной ходьбы у 4 (30,8%) детей выявлена стабилизация состояния, у 7 (53,8%) — прогрессирование заболевания, 2 (15,4%) ребёнка перешли в неамбулаторную стадию. При анализе баллов по шкале «Северная звезда» 1 (7,7%) ребёнок продемонстрировал улучшение показателей, 6 (46,1%) — стабилизацию, 4 (30,8%) — снижение, 2 (15,4%) — потерю амбулаторности.

Заключение

Заключение. Ранняя диагностика заболевания и своевременная инициация терапии с соблюдением всех стандартов ведения пациентов с МДД имеют решающее значение для сохранения двигательной функции. Патогенетическая терапия аталуреном увеличивает длительность амбулаторной стадии, улучшая и/или стабилизируя моторные навыки пациентов.

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

Участие авторов

Участие авторов:Попович С.Г. — концепция и дизайн статьи, написание текста, редактирование;Кузенкова Л.М. — концепция и дизайн статьи, написание текста, редактирование;Увакина Е.В. — концепция и дизайн статьи, редактирование;Подклетнова Т.В. — редактирование;Кожевникова О.В. — редактирование;Бушуева Т.В. — редактирование;Звонкова Н.Г. — редактирование.Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Попович С.Г., Кузенкова Л.М., Увакина Е.В., Подклетнова Т.В. являются лекторами, получающими гонорары от фармацевтической компании ООО «ПиТиСи Терапьютикс».

Поступила 31

Поступила 31.05.2024Принята к печати 20.06.2024Опубликована 31.07.2024

Aim

Aim. To analyze anamnestic, clinical and paraclinical indicators in patients with Duchenne muscular dystrophy (DMD) receiving pathogenetic therapy with a drug for correcting nonsense mutations in the dmd gene — ataluren (translarna), to evaluate the safety of therapy and the dynamics of motor disorders in real clinical practice against the background of use drug.

Materials and methods

Materials and methods. The study included 24 patients with DMD receiving ataluren who were hospitalized at the Center for Pediatric Psychoneurology of the National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation for the period from January 2019 to February 2024. An analysis of anamnestic data, the most common clinical manifestations and paraclinical indicators, assessed the safety of the drug by the presence of serious adverse events leading to discontinuation of therapy, and the effectiveness of treatment using functional scales of motor activity: the “North Star” scale and the 6-minute walk test.

Results

Results. The age of onset of independent walking was 14.3 ± 2.6 months, the age of onset of the disease was 3.3 ± 2.6 years, the age of visiting a doctor was 4.25 ± 2.00 years, the age of diagnosis was 5.3 ± 2,3 years, age of initiation of glucocorticosteroids (GCS) — 6.3 ± 1.8 years. GCS in an adequate dose and regimen was taken by 13 (56%) patients. Cognitive, emotional-volitional and behavioral disorders were registered in 17 (70.8%) patients, excess body weight — in 6 (25%), and stiffness of the ankle joints — in 9 (37.5%).Pulmonary function was analyzed in 16 (66.6%) patients, of which a decrease was detected in 1 boy. No patient experienced a serious adverse event leading to discontinuation of ataluren. When assessing the effectiveness of treatment in a group of patients under 7 years of age (n = 11), 10 (91%) children showed improvement or stabilization of their condition according to the 6-minute walk test; in 6 (54.5%) — improvement in motor skills when analyzing scores on the “North Star” scale; in 5 (45.5%) the condition was stabilized. the group of patients over 7 years of age (n = 13), according to the 6-minute walk test, 4 (30.8%) children showed stabilization of the condition, 7 (53.8%) had disease progression, 2 (15.4%) the child entered the non-ambulatory stage. When analyzing scores on the “North Star” scale, 1 (7.7%) child showed improvement in performance, 6 (46.1%) — stabilization, 4 (30.8%) — decrease, 2 (15.4%) — loss outpatient.

Conclusion

Conclusion. Early diagnosis of the disease and timely initiation of therapy in compliance with all standards of management of patients with DMD are crucial for maintaining motor function. Pathogenetic therapy with ataluren increases the duration of the outpatient stage, improving and/or stabilizing the motor skills of patients.

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

Contribution

Contribution:Popovich S.G. — concept and design of the article, text writing, editing;Kuzenkova L.M. — concept and design of the article, text writing, editing;Uvakina E.V. — concept and design of the article, editing;Podkletnova T.V. — editing;Kozhevnikova O.V. — editing;Bushueva T.V. — editing;Zvonkova N.G. — editing.All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article

Acknowledgment

Acknowledgment. The study had no sponsorship.

Conflict of interest

Conflict of interest. Popovich S.G., Kuzenkova L.M., Uvakina E.V., Podkletnova T.V. are lecturers receiving honoraria from the pharmaceutical company PTC Therapeutics LLC.

Received May 31, 2024Accepted June 20, 2024Published July 31, 2024

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