pediatricjournalАрхив педиатрии и детской хирургииArchives of Pediatrics and Pediatric Surgery2949-46643033-6783НИКИ детства Минздрава Московской области10.66825/2949-4664-apps-3-4-77-82pediatricjournal-252Research ArticleОБЗОР ЛИТЕРАТУРЫLITERATURE REVIEWИнновационные лекарственные препараты в терапии синдрома Ретта: настоящее и будущееInnovative medicines for Rett syndrome therapy: Present and futurehttps://orcid.org/0000-0003-1346-1351ПакЛ. А.PakL. A.

Пак Лолита Алиевна, д. м. н., заместитель директора по клинико-организационной работе, профессор кафедры клинической генетики и орфанных заболеваний

Lolita A. Pak, Dr. Sci. (Med.), Prof., Deputy Director for Clinical and Organizational Work, Department of Clinical Genetics and Orphan Diseases

24A, Kominterna str., Mytischi, 141009

lolitap@mail.ruГБУЗ МО «Научно-исследовательский клинический институт детства Минздрава Московской области»Research Clinical Institute of Childhood202508122025347782Copyright © Пак Л.А., 20252025Пак Л.А.Pak L.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nikid.ru/jour/article/view/252

Синдром Ретта (RTT, СР, MIM #312750) – тяжелое прогрессирующее наследственное заболевание, приводящее к нарушению развития нервной системы, возникающее преимущественно у девочек и являющееся одной из наиболее частых генетических причин умственной отсталости тяжелой степени у лиц женского пола. На протяжении десятилетий стратегия ведения пациентов с СР была ограничена паллиативной поддержкой в рамках мультидисциплинарного подхода и сосредоточена на коррекции наиболее тяжелых, угрожающих качеству жизни клинических проявлений. Данные терапевтические стратегии не влияли на патогенетические механизмы заболевания, не замедляли прогрессирование неврологических симптомов и, как следствие, не могли модифицировать течение СР, что создавало устойчивую неудовлетворенную потребность в патогенетической терапии (disease-modifying therapy). В статье представлен систематизированный обзор с анализом современных тенденций зарубежной практики разработки и регистрации лекарственных средств для лечения СР, а также информация о существующих и находящихся на стадии клинических исследований патогенетических препаратах, формирующих новую парадигму ведения пациентов с синдромом Ретта.

The Rett syndrome (RTT, RS, MIM #312750) is a severe progressive hereditary disease that leads to impaired development of the nervous system. This disorder, affecting primarily girls, remains one of the most common genetic causes of severe mental retardation in female patients. For decades, the management of RS patients has been largely limited to palliative and multidisciplinary care aimed at alleviating the most severe clinical signs threatening the quality of life. These strategies, however, do not target the pathogenetic mechanisms of the disease, thus failing to slow the progression of neurological symptoms and modify the RS course. This underscores the importance of creating disease-modifying therapeutic approaches. The present systematic review analyzes current international trends in the development and registration of medicines for RS treatment, along with the data on the existing disease-modifying drugs and those currently undergoing clinical studies. Such medicines form a new paradigm in the management of RS patients.

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