Page 9 - GTM-4-2

Global Translational Medicine

EDITORIAL
Adeno-associated virus as a powerful tool for

gene therapy

Ling Yin*
Institute of Health and Medicine, Hefei Comprehensive National Science Center, Hefei, Anhui, China
(This article belongs to the Special Issue: Gene Therapy Revolution in Cancer Immunology with
Groundbreaking AAV Research)

Gene therapy is a revolutionary new approach to treating genetic disorders by fixing errors
in DNA, potentially with a single treatment. The U.S. Food and Drug Administration
1
(FDA) and European regulators were expected to approve up to 17 new gene therapies
in 2024. These approvals include advances for rare diseases and even therapies that use
cells to target illnesses more effectively. One of the key tools for delivering these gene
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therapies is the adeno-associated virus (AAV), a type of virus that can insert corrected
genes into specific tissues without causing strong immune responses. This technology has
already helped restore vision for people with rare eye disorders and improve movement
abilities for young children with severe muscle disease. 5
AAV is a small, non-harmful virus discovered in the 1960s. It is employed to carry
healthy genes into specific body tissues by virtue of several advantages, such as high
specificity in cell targeting, long-lasting impact on the body, and minimal immune
reactions. This makes AAV the top choice for gene delivery in medical treatments.
6-8
Four AAV therapies have already been approved in the U.S. to treat serious diseases such
as certain eye and muscle disorders. AAV vectors present unique advantages, such as
specific tissue tropism, high transduction efficiency, low immune responses, long-lasting
gene expression, and staying unincorporated into the host chromosome, which make
*Corresponding author: them the most popular viral gene delivery system in clinical trials to achieve long-term
Ling Yin correction, addressing the unmet medical needs. Biallelic RPE65 mutation-associated
(lingyin@ihm.ac.cn) retinal dystrophy affects approximately 1,000 – 2,000 patients in the U.S. Biallelic
Citation: Yin L. Adeno-associated mutation carriers are recognized for harboring a mutation in both copies of a particular
virus as a powerful tool for gene gene. Luxturna, an AAV2 vector for one-time gene therapy treatment of patients with
9,10
therapy. Global Transl Med.
2025;4(2):1-2. established genetic vision loss due to Leber congenital amaurosis or retinitis pigmentosa,
doi: 10.36922/GTM025120026 has become the first viral-based drug approved by the FDA in 2017. After receiving
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Received: March 17, 2025 treatment with Luxturna, patients with confirmed biallelic RPE65 mutation-associated
retinal dystrophy underwent vision restoration within several months. Children with
Published online: April 4, 2025 spinal muscular atrophy (SMA) experience difficulty performing essential life functions
Copyright: © 2025 Author(s). and surviving past early childhood due to respiratory failure. Zolgensma, also known
This is an Open-Access article as AVXS-101, an AAV9 vector for one-time gene therapy treatment of pediatric SMA
distributed under the terms of the
Creative Commons Attribution patients less than 2 years of age with biallelic mutations in the survival motor neuron
License, permitting distribution, 1 (SMN1) gene, was approved by the FDA in 2019. After receiving treatment with
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and reproduction in any medium, Zolgensma, patients showed improvements in their ability to reach developmental
provided the original work is
properly cited. motor milestones, such as head control and the ability to sit without support.
Publisher’s Note: AccScience AAV’s ability to transfer corrected genes directly into affected tissues without
Publishing remains neutral with triggering severe immune reactions has opened doors for ground-breaking treatments.
regard to jurisdictional claims in
published maps and institutional AAV vectors are widely applied in clinical delivery system due to their multiple
affiliations. unique advantages, as stated in the above, which allow for the successful delivery

Volume 4 Issue 2 (2025) 1 doi: 10.36922/GTM025120026