pediatricjournalАрхив педиатрии и детской хирургииArchives of Pediatrics and Pediatric Surgery2949-46643033-6783НИКИ детства Минздрава Московской областиpediatricjournal-201Research ArticleОБЗОРЫREVIEWSИННОВАЦИОННЫЕ ЛЕКАРСТВЕННЫЕ ПРЕПАРАТЫ В ТЕРАПИИ СИНДРОМА РЕТТА: НАСТОЯЩЕЕ И БУДУЩЕЕ.https://orcid.org/0000-0003-1346-1351ПакЛолита Алиевна

заместитель директора по  клинико-организационной работе, профессор кафедры клинической генетики и орфанных заболеваний

lolitap@mail.ruГБУЗ МО "НИКИ детства Минздрава МО"Russian Federation20250506202634201Copyright © Пак Л.А., 20252025Пак Л.А.Пак Л.А.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/201

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 неудовлетворённую 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.

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