2025 / 02

DOI: 10.24075/brsmu.2025.025
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).

CLINICAL CASE

Two-step AAV8 gene delivery in a child with Crigler-Najjar syndrome type I

Rebrikov DV1,2, Degtyareva AV1, Yanushevich YuG2, Gautier MS1, Gorodnicheva TV1,2, Bavykin AS1,2, Ushakova LV1, Filippova EA1, Degtyarev DN1, Sukhikh GT1
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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  2. Collaud F, Bortolussi G, Guianvarc`h L, et al. Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome. Mol Ther Methods Clin Dev. 2018; 12: 157-74.
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