In vivo applications and toxicities of AAV-based gene therapies in rare diseases

Abstract Adeno-associated virus (AAV), renowned for its exceptionally low pathogenicity and significant efficacy in clinical gene therapy, has emerged as a leading delivery vector in the field of gene therapy. AAV can achieve stable gene expression in various tissues, which has made it a promising t...

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Main Authors: Qian Zhao, Huifang Peng, Yujin Ma, Huijun Yuan, Hongwei Jiang
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-025-03893-z
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author Qian Zhao
Huifang Peng
Yujin Ma
Huijun Yuan
Hongwei Jiang
author_facet Qian Zhao
Huifang Peng
Yujin Ma
Huijun Yuan
Hongwei Jiang
author_sort Qian Zhao
collection DOAJ
description Abstract Adeno-associated virus (AAV), renowned for its exceptionally low pathogenicity and significant efficacy in clinical gene therapy, has emerged as a leading delivery vector in the field of gene therapy. AAV can achieve stable gene expression in various tissues, which has made it a promising treatment for genetic disorders. To date, eight AAV-based gene therapies have been approved by the U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA). This review summarizes clinical trials of AAV gene therapies for rare diseases, including ophthalmic diseases, nervous system disorders, hematological diseases, neuromuscular diseases, lysosomal storage diseases. We also explore potential side effects and toxicities associated with AAV therapies. Our objective is to provide valuable insights for researchers and clinicians working on AAV-based therapies, helping improve the safety and effectiveness of these treatments.
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issn 1750-1172
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publishDate 2025-07-01
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series Orphanet Journal of Rare Diseases
spelling doaj-art-1dfd4295da05466ebe4b6e8b4d0f3efb2025-08-20T03:42:07ZengBMCOrphanet Journal of Rare Diseases1750-11722025-07-0120111410.1186/s13023-025-03893-zIn vivo applications and toxicities of AAV-based gene therapies in rare diseasesQian Zhao0Huifang Peng1Yujin Ma2Huijun Yuan3Hongwei Jiang4Luoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and TechnologyLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and TechnologyLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and TechnologyInstitute of Rare Diseases, West China Hospital of Sichuan UniversityLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and TechnologyAbstract Adeno-associated virus (AAV), renowned for its exceptionally low pathogenicity and significant efficacy in clinical gene therapy, has emerged as a leading delivery vector in the field of gene therapy. AAV can achieve stable gene expression in various tissues, which has made it a promising treatment for genetic disorders. To date, eight AAV-based gene therapies have been approved by the U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA). This review summarizes clinical trials of AAV gene therapies for rare diseases, including ophthalmic diseases, nervous system disorders, hematological diseases, neuromuscular diseases, lysosomal storage diseases. We also explore potential side effects and toxicities associated with AAV therapies. Our objective is to provide valuable insights for researchers and clinicians working on AAV-based therapies, helping improve the safety and effectiveness of these treatments.https://doi.org/10.1186/s13023-025-03893-zAdeno-associated virusClinical trialsEfficacyAdverse effects/ToxicitiesGene therapies
spellingShingle Qian Zhao
Huifang Peng
Yujin Ma
Huijun Yuan
Hongwei Jiang
In vivo applications and toxicities of AAV-based gene therapies in rare diseases
Orphanet Journal of Rare Diseases
Adeno-associated virus
Clinical trials
Efficacy
Adverse effects/Toxicities
Gene therapies
title In vivo applications and toxicities of AAV-based gene therapies in rare diseases
title_full In vivo applications and toxicities of AAV-based gene therapies in rare diseases
title_fullStr In vivo applications and toxicities of AAV-based gene therapies in rare diseases
title_full_unstemmed In vivo applications and toxicities of AAV-based gene therapies in rare diseases
title_short In vivo applications and toxicities of AAV-based gene therapies in rare diseases
title_sort in vivo applications and toxicities of aav based gene therapies in rare diseases
topic Adeno-associated virus
Clinical trials
Efficacy
Adverse effects/Toxicities
Gene therapies
url https://doi.org/10.1186/s13023-025-03893-z
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AT huifangpeng invivoapplicationsandtoxicitiesofaavbasedgenetherapiesinrarediseases
AT yujinma invivoapplicationsandtoxicitiesofaavbasedgenetherapiesinrarediseases
AT huijunyuan invivoapplicationsandtoxicitiesofaavbasedgenetherapiesinrarediseases
AT hongweijiang invivoapplicationsandtoxicitiesofaavbasedgenetherapiesinrarediseases