ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
Copyright: © 2025 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
CLINICAL CASE
Two-step AAV8 gene delivery in a child with Crigler-Najjar syndrome type I
About authors
1 Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
2 Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russia
Correspondence should be addressed: Denis V. Rebrikov
Ostrovityanova, 1, Moscow, 117997, Russia; moc.liamg@vokirberd
About paper
Funding: This work was supported by the Ministry of Health of the Russian Federation (No. 124020400004-9).
Author contribution: Rebrikov DV — literature analysis, study planning, development of study concept and design, development of drug concept, data interpretation, manuscript preparation; Degtyareva AV — literature analysis, study planning, development of study concept and design, patient examination, data interpretation; Gautier MS, Ushakova LV, Filippova EA — patient examination; Yanushevich YuG, Gorodnicheva TV, Bavykin AS — drug development, data interpretation, manuscript preparation; Degtyarev DN, Sukhikh GT — development of study concept and design, data interpretation.
Compliance with ethical standards: the therapy was approved by Ethics Committee at the Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology on Dec 01 2022, Protocol #12 for infusion I, and on Jul 20 2023, Protocol #7 for infusion II. The patient's legal representatives provided voluntary informed consents for the study and for each infusion of the drug.
Received: 2025-04-25
Accepted: 2025-04-29
Published online: 2025-04-30
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Fig. 1. Immunohistochemistry for human UDP-glucuronosyltransferase 1A1 in mouse liver, post-infusion week 6. The sections counterstained with hematoxylin were assessed using antibodies to human UGT1A1 topped with HRP-conjugated second antibody. Vector doses, vg/kg, are indicated. Black arrows in the low-dose images indicate perivascular localization of the signal
Fig. 2. Dynamics of indirect bilirubin levels with regard to alphaglucuronosyltransferasegene unoparvovec infusions I and II, adjusted phototherapy regimens and prednisolone support (oral doses, starting from 1 mg/kg daily)
