Novel AAV44.9-Based Vectors Display Exceptional Characteristics for Retinal Gene Therapy
Open accessAbstract
The majority of inherited retinal diseases (IRDs) are caused by mutations in genes expressed in photoreceptors (PRs). The ideal vector to address these conditions is one that transduces PRs in large areas of retina with the smallest volume/lowest titer possible, and efficiently transduces foveal cones, the cells responsible for acute, daylight vision that are often the only remaining area of functional retina in IRDs. The purpose of our study was to evaluate the retinal tropism and potency of a novel capsid, AAV44.9, and rationally designed derivatives thereof. We found that AAV44.9 and AAV44.9(E531D) transduced retinas of subretinally injected (SRI) mice with higher efficiency than did benchmark AAV5- and AAV8-based vectors. In macaques, highly efficient cone and rod transduction was observed following submacular and peripheral SRI. AAV44.9- and AAV44.9(E531D)-mediated GFP fluorescence extended laterally well beyond SRI bleb margins. Notably, extrafoveal injection (i.e., fovea not detached during surgery) led to transduction of up to 98% of foveal cones. AAV44.9(E531D) efficiently transduced parafoveal and perifoveal cones, whereas AAV44.9 did not. AAV44.9(E531D) was also capable of restoring retinal function to a mouse model of IRD. These novel capsids will be useful for addressing IRDs that would benefit from an expansive treatment area.
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Extra-foveal SRI of AAV44.9-based vectors promoted 98% transduction of foveal cones in macaque without the need to detach the fovea during surgery.
“extra-foveal SRI of such vectors (AAV44.9 based) promoted 98% transduction of foveal cones in macaque without the need to detach the fovea during surgery.112”
From Current clinical applications of in vivo gene therapy with AAVs (2021) · cites this paper as [112]
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Self-citationRetinal transduction profiling of diverse AAV serotypes via intravitreal injection
Zhang, T., Wang, F., Wu, Y., Cao, J., & Shen, Y. (2025) · Journal of Virology · doi:10.1128/jvi.00637-25 · Cited by 8 · see citing works
Boye, S. L., O’Riordan, C., Morris, J., Lukason, M., Compton, D., Baek, R., Elmore, D. M., Peterson, J. J., Fajardo, D., McCullough, K. T., et al. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.12.007 · Cited by 8 · see citing works
Self-citationOcular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates
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Lewin, A. S., & Smith, W. C. (2022) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041283 · Cited by 5 · see citing works
Andrés‐Mateos, E., Kozlowski, C., Zhang, H., Fajardo, D., Xu, E., Navas‐Enamorado, I., Calabro, K. R., Rayaprolu, S., Havlik, L. P., Handy, T. E., et al. (2026) · Molecular Therapy · doi:10.1016/j.ymthe.2026.03.014 · Cited by 3 · see citing works
Self-citationDevelopment of an AAV-based gene therapy for the ocular phenotype of Friedreich’s ataxia
Tang, H., Gupte, S., Xu, E., Calabro, K. R., Friend, H., Crosson, S. M., Fajardo, D. S., Kostamo, Z., Zhang, H., Peterson, J. J., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.10.048 · Cited by 1 · see citing works
Self-citationInterrogating the dependency of AAV capsids on AAVR for retinal transduction
Hinsch, V. G., Kellish, P. C., Xu, E. M., Fajardo, D., McLaughlin, K., Kiel, K. N., Peterson, J. J., Friend, H. L., Boye, S. L., & Boye, S. E. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201677 · Cited by 1 · see citing works
Self-citationAdeno-associated Viral Vectors in the Retina: Delivering Gene Therapy to the Right Destination
Rudnick, N. D., Kim, L. A., & Comander, J. (2022) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000416 · Cited by 1 · see citing works
Terminal glucose as a receptor for adeno-associated virus 44.9
Pasquale, G. D., Tehrani, H., Shinder, I., Afione, S. A., & Chiorini, J. A. (2026) · Journal of Virology · doi:10.1128/jvi.00254-25
Self-citationRethinking nonsense suppression therapies in inherited retinal diseases
Ren, C., Hu, C., Hu, M., Yang, Y., & Lu, F. (2026) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2026.09.017
- Authors
- Boye, S. L., Choudhury, S., Crosson, S., Di Pasquale, G., Afione, S., Mellen, R., Makal, V., Calabro, K. R., Fajardo, D., Peterson, J., Zhang, H., Leahy, M. T., Jennings, C. K., Chiorini, J. A., Boyd, R. F., & Boye, S. E.
- Affiliations
- University of Florida (US)
- National Institutes of Health (US)
- Charles River Laboratories (United States) (US)
- Corresponding author
- Boye, Shannon E.
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2020-06
- Volume
- 28
- Issue
- 6
- Pages
- 1464-1478
- ISSN
- 1525-0016 (ISSN-L)
- PMC
- PMC7264435
- OpenAlex
- W3015577849
- Cited by
- 29
- References
- 62
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 1 · 2023: 4 · 2022: 7 · 2021: 6 · 2020: 2
- FWCI
- 2.79
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Therapy (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Dental and Craniofacial Research
- University of Florida
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- retinal gene therapy, inherited retinal disease, phototransduction, subretinal injection, AAV5, AAV8, rod photoreceptors
- MeSH terms
- Dependovirus, Animals, Disease Models, Animal, Fluorescent Antibody Technique, Genetic Engineering, Genetic Vectors, Macaca fascicularis, Ophthalmoscopy, Promoter Regions, Genetic, Retina, Retinal Diseases, Transduction, Genetic, Genetic Therapy, Gene Expression, Genes, Reporter, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, Gene Transfer Techniques, Microscopy, Confocal, Transgenes, Mice, Injections, Intraocular
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