medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.01.19-25medgen-2407Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHОпыт применения терапии пропуском экзона 45 у пациентов с прогрессирующей мышечной дистрофией ДюшеннаExperience with exon 45 skipping therapy in patients with Duchenne muscular dystrophyАртемьеваС. Б.ArtemyevaS. B.

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ул. Талдомская, д. 2

Москва

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2, Taldomskaya st.

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БелоусоваЕ. Д.BelousovaE. D.

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ул. Талдомская, д. 2

Москва

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2, Taldomskaya st.

Moscow

ВлодавецД. В.VlodavetsD. V.

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ул. Талдомская, д. 2

Москва

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2, Taldomskaya st.

Moscow

КузенковаЛ. М.KuzenkovaL. M.

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Ломоносовский проспект, 2, стр. 1

Москва

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2-1, Lomonosovsky Prospekt

Moscow

МихайловаС. В.MikhailovaS. V.

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Ломоносовский проспект, 2, стр. 1

Москва

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2-1, Lomonosovsky Prospekt

Moscow

ПодклетноваТ. В.PodkletnovaT. V.

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Ломоносовский проспект, 2, стр. 1

Москва

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2-1, Lomonosovsky Prospekt

Moscow

ПоповичС. Г.PopovichS. G.

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Ломоносовский проспект, 2, стр. 1

Москва

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2-1, Lomonosovsky Prospekt

Moscow

УвакинаЕ. В.UvakinaE. V.

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Ломоносовский проспект, 2, стр. 1

Москва

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2-1, Lomonosovsky Prospekt

Moscow

УсачеваЕ. Л.UsachevaE. L.

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Москва

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117, Leninsky Prospect

Moscow

Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е.Вельтищева ФГАУО «РНИМУ им. Н.И.Пирогова» Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical UniversityRussian FederationФГАУ Национальный медицинский исследовательский центр здоровья детей Минздрава РоссииРоссияScientific Center for Children’s Health of the Ministry of Health of the Russian FederationRussian FederationРоссийская детская клиническая больница – филиал ФГАОУ ВО «РНИМУ имени Н.И. Пирогова» Минздрава РоссииРоссияRussian Children’s Clinical Hospital of the Russian National Medical Research University named after N. I. Pyrogov, Ministry of Health of RussiaRussian Federation2024050320242311925Copyright © Артемьева С.Б., Белоусова Е.Д., Влодавец Д.В., Кузенкова Л.М., Михайлова С.В., Подклетнова Т.В., Попович С.Г., Увакина Е.В., Усачева Е.Л., 20242024Артемьева С.Б., Белоусова Е.Д., Влодавец Д.В., Кузенкова Л.М., Михайлова С.В., Подклетнова Т.В., Попович С.Г., Увакина Е.В., Усачева Е.Л.Artemyeva S.B., Belousova E.D., Vlodavets D.V., Kuzenkova L.M., Mikhailova S.V., Podkletnova T.V., Popovich S.G., Uvakina E.V., Usacheva E.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2407

   Прогрессирующая мышечная дистрофия Дюшенна (ПМД Дюшенна) является наиболее распространенным нервно-мышечным заболеванием в мире. ПМД Дюшенна относится к группе так называемых дистрофинопатий, связанных с мутациями в гене DMD, наследуется по Х-сцепленному рецессивному типу и обусловлена либо полным отсутствием белка дистрофина, либо его дефектным синтезом. В настоящее время появилось несколько патогенетических лекарственных препаратов, направленных на восстановление синтеза белка дистрофина. Одним из них является антисмысловой олигонуклеотид касимерсен, работающий по технологии экзон-скиппинга 45 экзона. В статье представлен первый опыт применения препарата касимерсен у 6 пациентов из России, причем пациенты значимо отличались друг от друга по функциональному статусу и имеющимся осложнениям основного заболевания. У всех пациентов применение касимерсена было безопасным, не было выявлено никаких нежелательных явлений, связанных с применением препарата. А у одного из пациентов, находящегося на ранней амбулаторной стадии болезни, которому патогенетическая терапия была инициирована в возрасте 7 лет, констатирована выраженная положительная динамика в виде прироста дистанции на 140 метров по результатам 6-минутного теста ходьбы и увеличения на 10 баллов по шкале «Северная Звезда».

   Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in the world. DMD belongs to the group of so-called dystrophinopathies associated with mutations in the DMD gene, is inherited in an X-linked recessive manner and is caused by either the complete absence of the dystrophin protein or its defective synthesis. Currently, several pathogenetic drugs have appeared aimed at restoring the synthesis of the dystrophin protein. One of them is the antisense oligonucleotide casimersen, which works using exon skipping technology of exon 45 in DMD gene. The article presents the first experience of using the drug casimersen in 6 patients from Russia, and the patients differed significantly from each other in functional status and existing complications of the underlying disease. In all patients, the use of casimersen was safe, and no adverse events associated with the use of the drug were identified. And in one of the patients, who was at an early outpatient stage of the disease, for whom pathogenetic therapy was initiated at the age of 7 years, pronounced positive dynamics were noted in the form of an increase in distance by 140 meters according to the results of a 6-minute walking test and an increase of 10 points on the «North Star».

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