Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children107010.24287/j.1070LITERATURE REVIEWОБЗОР ЛИТЕРАТУРЫReview ArticleSubstrate reduction therapy with eliglustat in patients with Gaucher disease type 1Субстратредуцирующая терапия элиглустатом у пациентов с болезнью Гоше 1-го типаhttps://orcid.org/0009-0008-6999-0053GalimovaM. T.ГалимоваМ. Т.
Russian Federation

Hematologist at the Department of Hematology and Chemotherapy of Orphan Diseases

врач-гематолог отделения гематологии и химиотерапии орфанных заболеваний

m.galimova1998@yandex.ruhttps://orcid.org/0000-0002-8774-850XLukinaE. A.ЛукинаЕ. А.
Russian Federation
m.galimova1998@yandex.ruNational Medical Research Center for Hematology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр гематологии» Минздрава России140420262512132180502202606022026Copyright ©; 2026, «D. Rogachev NMRCPHOI»Copyright ©; 2026, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2026«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/1070

Currently, there are two approaches to treating hereditary enzyme deficiency – Gaucher disease: intravenous infusions of recombinant enzyme – imiglucerase, velaglucerase, or taliglucerase (enzyme replacement therapy), and substrate reduction therapy with eliglustat, the advantage of which is oral administration 1–2 times a day. International phase II/III clinical trials conducted between 2006 and 2016 demonstrated high efficacy and safety of eliglustat for adult patients with Gaucher disease type 1 without severe comorbidities. According to the results of these studies, eliglustat was approved for the treatment of Gaucher disease in the United States and the European Union in 2014. A multicenter study evaluating the efficacy and safety of eliglustat in children with Gaucher disease was initiated in 2018 and completed in December 2025. This literature review summarizes data on the mechanism of action of eliglustat, its dosing characteristics, and its potential use in patients with concomitant organ pathology. In addition, the results of a comparison of changes in Gaucher disease biomarkers during substrate reduction therapy with eliglustat and enzyme replacement therapy are presented.

В настоящее время для лечения наследственной ферментопатии – болезни Гоше – существует два подхода: внутривенные инфузии рекомбинантного фермента – имиглюцеразы, велаглюцеразы или талиглюцеразы (заместительная ферментная терапия) и субстратредуцирующая терапия элиглустатом, преимуществом данного препарата является пероральный прием 1–2 раза в день. Международные клинические исследования фазы II/III, проходившие в 2006–2016 гг., показали высокую эффективность и безопасность элиглустата для лечения взрослых пациентов с болезнью Гоше 1-го типа, не имеющих тяжелой сопутствующей патологии. В соответствии с результатами этих исследований в 2014 г. элиглустат был одобрен для лечения болезни Гоше в США и Европейском Союзе. Многоцентровое исследование, посвященное оценке эффективности и безопасности лечения элиглустатом детей с болезнью Гоше, было начато в 2018 г. и завершилось в декабре 2025 г. В представленном обзоре литературы обобщены данные, касающиеся механизма действия элиглустата, особенностей его дозирования и возможности применения на фоне сопутствующей органной патологии. Кроме того, приведены результаты сравнения динамики биомаркеров болезни Гоше на фоне субстратредуцирующей терапии элиглустатом и заместительной ферментной терапии.

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