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Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
Open accessAbstract
Background Safety and efficacy have been shown in a phase 1 dose-escalation study involving a unilateral subretinal injection of a recombinant adeno-associated virus (AAV) vector containing the RPE65 gene (AAV2-hRPE65v2) in individuals with inherited retinal dystrophy caused by RPE65 mutations. This finding, along with the bilateral nature of the disease and intended use in treatment, prompted us to determine the safety of administration of AAV2-hRPE65v2 to the contralateral eye in patients enrolled in the phase 1 study.Methods In this follow-on phase 1 trial, one dose of AAV2-hRPE65v2 (1.5 × 10(11) vector genomes) in a total volume of 300 μL was subretinally injected into the contralateral, previously uninjected, eyes of 11 children and adults (aged 11-46 years at second administration) with inherited retinal dystrophy caused by RPE65 mutations, 1.71-4.58 years after the initial subretinal injection. We assessed safety, immune response, retinal and visual function, functional vision, and activation of the visual cortex from baseline until 3 year follow-up, with observations ongoing. This study is registered with ClinicalTrials.gov, number NCT01208389.Findings No adverse events related to the AAV were reported, and those related to the procedure were mostly mild (dellen formation in three patients and cataracts in two). One patient developed bacterial endophthalmitis and was excluded from analyses. We noted improvements in efficacy outcomes in most patients without significant immunogenicity. Compared with baseline, pooled analysis of ten participants showed improvements in mean mobility and full-field light sensitivity in the injected eye by day 30 that persisted to year 3 (mobility p=0.0003, white light full-field sensitivity p<0.0001), but no significant change was seen in the previously injected eyes over the same time period (mobility p=0.7398, white light full-field sensitivity p=0.6709). Changes in visual acuity from baseline to year 3 were not significant in pooled analysis in the second eyes or the previously injected eyes (p>0.49 for all time-points compared with baseline).Interpretation To our knowledge, AAV2-hRPE65v2 is the first successful gene therapy administered to the contralateral eye. The results highlight the use of several outcome measures and help to delineate the variables that contribute to maximal benefit from gene augmentation therapy in this disease.Funding Center for Cellular and Molecular Therapeutics at The Children's Hospital of Philadelphia, Spark Therapeutics, US National Institutes of Health, Foundation Fighting Blindness, Institute for Translational Medicine and Therapeutics, Research to Prevent Blindness, Center for Advanced Retinal and Ocular Therapeutics, Mackall Foundation Trust, F M Kirby Foundation, and The Research Foundation-Flanders.
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“However, the presence of pre-existing neutralizing antibodies to AAV does not appear to correlate with a higher risk of retinal inflammation or reduced therapeutic efficacy, provided that the AAV vector is delivered via the subretinal route.27, 28, 29”
From Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina (2021) · cites this paper as [29]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Apart from one participant who unfortunately devel oped culture-positive bacterial endophthalmitis after surgery, no par ticipants demonstrated intraocular inflammation or CRA within three years of second eye treatment.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Bennett et al., 2016
Experimental — accuracy not yet measuredIn the citing paper
“Furthermore, in the clinical setting, ocular and intrathecal AAV gene delivery have shown limited transgene-related immune responses, possibly due to their compartmentation and reduced antigen presentation [16, 132, 133].”
From Immunogenicity of Recombinant Adeno-Associated Virus (AAV) Vectors for Gene Transfer (2023) · cites this paper as [133]
In the citing paper
“Phase I to III clinical trials for Luxturna have consistently demonstrated its ability to bring about sustained improvements in low luminance vision in otherwise blind patients [Maguire 2009; Bennett 2016; Russell 2017].”
From Correcting visual loss by genetics and prosthetics (2020) · cites this paper as Bennett 2016
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Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145
Self-citationEffect of gene therapy on visual function in Leber’s congenital amaurosis
Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924
Gene therapy restores vision in a canine model of childhood blindness
Acland, G. M., Aguirre, G. D., Ray, J., Zhang, Q., Aleman, T. S., Cideciyan, A. V., Pearce-Kelling, S. E., Anand, V., Zeng, Y., Maguire, A. M., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-92 · Cited by 1,202
Self-citationHauswirth, W. W., Aleman, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S. B., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.107 · Cited by 954
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
Redmond., T. M., Yu, S., Lee, E., Bok, D., Hamasaki, D., Chen, N., Goletz, P., Ma, J.-X., Crouch, R. K., & Pfeifer, K. (1998) · Nature Genetics · doi:10.1038/3813 · Cited by 929
Maguire, A. M., High, K. A., Auricchio, A., Wright, J. F., Pierce, E. A., Testa, F., Mingozzi, F., Bennicelli, J. L., Ying, G.-S., Rossi, S., et al. (2009) · The Lancet · doi:10.1016/s0140-6736(09)61836-5 · Cited by 865
Self-citationLong-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis
Bainbridge, J. W. B., Mehat, M. S., Sundaram, V., Robbie, S. J., Barker, S. E., Ripamonti, C., Georgiadis, A., Mowat, F. M., Beattie, S. G., Gardner, P. J., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1414221 · Cited by 743
Holladay, J. T. (2004) · Journal of Cataract & Refractive Surgery · doi:10.1016/j.jcrs.2004.01.014 · Cited by 688
Cideciyan, A. V., Alemán, T. S., Boye, S. L., Schwartz, S., Kaushal, S., Román, A. J., Pang, J., Sumaroka, A., Windsor, E. A. M., Wilson, J. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807027105 · Cited by 674
Jacobson, S. G. (2012) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2011.298 · Cited by 639
Research works printed but not linked: 1
- Amado, 2010, Safety and efficacy of subretinal re-administration of an AAV2 vector in large animal models: implications for studies in humans, Sci Transl Med, 2, 21ra16
Cited by
Sorted by citations
Items 301–400 of 463
Chirco, K. R., Martinez, C., & Lamba, D. A. (2023) · Vision Research · doi:10.1016/j.visres.2023.108257 · Cited by 8
Preparation and Administration of Adeno-associated Virus Vectors for Corneal Gene Delivery
Song, L., Bower, J. J., & Hirsch, M. L. (2020) · Methods in molecular biology · doi:10.1007/978-1-0716-0599-8_7 · Cited by 8
Komatsu, Y., Tanaka, C., Komorizono, R., & Tomonaga, K. (2020) · Scientific Reports · doi:10.1038/s41598-020-62630-7 · Cited by 8
AlEissa, M. M., Alhawsawi, A. A., Alonazi, R. H., Magharbil, E., Aljahdali, A., ALBalawi, H. B., Alali, N. M., Hameed, S., Abu‐Amero, K. K., & Magliyah, M. (2025) · Genes · doi:10.3390/genes16070847 · Cited by 7
Pinedo-Diaz, G., Lorenz, B., Künzel, S. H., Thiele, S., Cisneros, S. O., Corrochano, E. B., Holz, F. G., & Effland, A. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.1.5 · Cited by 7
Current Concepts and Emerging Gene Therapies for Inherited Retinal Diseases
Gregori, N. Z., Hussain, R. M., Kay, C. N., Lam, B. L., Dermer, H., & Davis, J. L. (2018) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000259 · Cited by 7
Iuliano, L., Fogliato, G., Corbelli, E., Bandello, F. M., & Codenotti, M. (2020) · Eye · doi:10.1038/s41433-020-01188-0 · Cited by 7
Egan, M. E. (2022) · Clinics in Chest Medicine · doi:10.1016/j.ccm.2022.06.011 · Cited by 7
Visual Consequences of Delivering Therapies to the Subretinal Space
Duncan, J. L. (2017) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2016.5659 · Cited by 7
Attenuation of Inherited and Acquired Retinal Degeneration Progression with Gene-based Techniques
Cho, G. Y., Bolo, K. A., Park, K. S., Sengillo, J. D., & Tsang, S. H. (2018) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-018-0377-1 · Cited by 8
Establishment of a Recombinant AAV2/HBoV1 Vector Production System in Insect Cells
Deng, X., Zou, W., Yan, Z., & Qiu, J. (2020) · Genes · doi:10.3390/genes11040439 · Cited by 7
Fujinami, K., Akiyama, K., Tsunoda, K., Ito, S., Seko, N., & Yamamoto, S. (2025) · Ophthalmology Science · doi:10.1016/j.xops.2025.100876 · Cited by 6
RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec
Štingl, K., Priglinger, C., & Herrmann, P. (2024) · Klinische Monatsblätter für Augenheilkunde · doi:10.1055/a-2227-3671 · Cited by 6
Central visual pathways affected by degenerative retinal disease before and after gene therapy
Ashtari, M., Bennett, J., & Leopold, D. A. (2024) · Brain · doi:10.1093/brain/awae096 · Cited by 6
Self-citationLi, X., Wu, Z., Fan, J.-Y., Liu, M., Song, C., Chen, H., Yin, Y., Li, A., Wang, Y., Gao, S., et al. (2024) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2024.05.012 · Cited by 6
Herreño-Pachón, A. M., Sawamoto, K., Stapleton, M., Khan, S. A., Piechnik, M., Álvarez, J. V., & Tomatsu, S. (2024) · Human Gene Therapy · doi:10.1089/hum.2024.096 · Cited by 6
Benefits of gene therapy for both eyes
MacLaren, R. E. (2016) · The Lancet · doi:10.1016/s0140-6736(16)30783-8 · Cited by 6
Yu, D. L., Chow, N., Bridle, B. W., & Wootton, S. K. (2021) · Viruses · doi:10.3390/v13102002 · Cited by 6
Neroev, V. V., Катаргина, Л. А., Кадышев, В. В., Zolnikova, I. V., & Kutsev, S. I. (2021) · Russian Ophthalmological Journal · doi:10.21516/2072-0076-2021-14-3-78-82 · Cited by 6
Slijkerman, R., van Diepen, H., Albert, S., Dona, M., Venselaar, H., Zang, J., Neuhauss, S. C. F., Peters, T., Broekman, S., Pennings, R., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.06.320499 · Cited by 6
Correcting visual loss by genetics and prosthetics
Xue, K., & MacLaren, R. E. (2020) · Current Opinion in Physiology · doi:10.1016/j.cophys.2020.03.003 · Cited by 5
Gene Therapy for Hearing Loss: A Review
Swain, S. K. (2024) · Apollo Medicine · doi:10.1177/09760016241286276 · Cited by 5
Tsaregorodtseva, T. S., Radyukhina, M. A., Ayupova, A. I., Solovyeva, V. V., Sufianov, A. A., Суфианова, Г. З., & Rizvanov, A. A. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27114818 · Cited by 5
Nagase, K., & Kanazawa, H. (2025) · Analytical Sciences · doi:10.1007/s44211-025-00785-x · Cited by 5
Terzic, B., Melin, E., Fagergren, P., Dobry, D., Cattaneo, S., Giupponi, I., Bettegazzi, B., Simonato, M., Agerman, K., Kokaia, M., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.06.019 · Cited by 5
Viral Vector Technologies and Strategies: Improving on Nature
Croze, R. H., Kotterman, M. A., Burns, C. H., Schmitt, C. E., Quezada, M., Schaffer, D. V., Kirn, D. H., & Francis, P. J. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000361 · Cited by 5
Kamenarova, K., Mihova, K. Y., Veleva, N., Мермеклиева, Е., Mihaylova, B., Dimitrova, G., Oscar, A. H., Shandurkov, I., Cherninkova, S., & Kaneva, R. P. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1997 · Cited by 6
Organoid transduction using recombinant adeno‐associated viral vectors: Challenges and opportunities
Belova, L., Лавров, А. В., & Smirnikhina, S. (2022) · BioEssays · doi:10.1002/bies.202200055 · Cited by 6
INTRAOPERATIVE BLEB BEHAVIOR IN SUBRETINAL GENE AUGMENTATION THERAPY FOR INHERITED RETINAL DISEASES
Sisk, R. A., Berger, T. A., Williams, E. R., & Riemann, C. D. (2023) · Retina · doi:10.1097/iae.0000000000003857 · Cited by 5
Audo, I. S., Barale, P. O., Devisme, C., Mohand‐Saïd, S., Meunier, I., Smirnov, V. M., Dhaenens, C., Andrieu, C., Zeitz, C., Pagot, C., et al. (2025) · Eye · doi:10.1038/s41433-025-03691-8 · Cited by 5
Neurons under genetic control: What are the next steps towards the treatment of movement disorders?
Tsanov, M. (2020) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2020.11.012 · Cited by 5
Viral Vectors in Gene Therapy and Clinical Applications
Mahoney, A. L. G., Nassif, N. T., O’Brien, B. A., & Simpson, A. M. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.102559 · Cited by 5
Retinoid therapy restores eye-specific cortical responses in adult mice with retinal degeneration
Huh, C. Y. L., Leinonen, H., Nakayama, T., Tomasello, J., Zhang, J., Zeitoun, J. H., Peach, J. P., Halabi, M., Kiser, J. Z., Palczewski, K., et al. (2022) · Current Biology · doi:10.1016/j.cub.2022.09.005 · Cited by 5
Jones, M. K., Orozco, L. D., Qin, H., Truong, T., Caplazi, P., Elstrott, J., Modrusan, Z. D., Chaney, S. Y., & Jeanne, M. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1252547 · Cited by 6
Gene Therapy in Tyrosinemia: Potential and Pitfalls
Carter, S., & Doyon, Y. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-55780-9_21 · Cited by 5
Gene Therapy Using Efficient Direct Lineage Reprogramming Technology for Neurological Diseases
Chang, Y., Lee, S., Kim, J., Kim, C., Shim, H. S., Lee, S. E., Park, H. J., Kim, J., Lee, S., Lee, Y. K., et al. (2023) · Nanomaterials · doi:10.3390/nano13101680 · Cited by 5
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT
Simunovic, M. P., Moore, A. T., Grigg, J., Sergouniotis, P. I., Mahroo, O. A., Vincent, A. L., Singh, M. S., Fischer, M. D., Edwards, T. L., Mack, H. G., et al. (2024) · Retina · doi:10.1097/iae.0000000000004296 · Cited by 4
Self-citationAssessment of Immune Responses Against AAV Encoded Transgene Products
Gorovits, B., Azadeh, M., Fiscella, M., Harrison, T., Hofer, M., Janetzki, S., Jawa, V., Long, B. R., Lu, Y., Mahnke, Y. D., et al. (2026) · The AAPS Journal · doi:10.1208/s12248-025-01192-w · Cited by 4
Emerging Gene Therapy Technologies for Retinal Ganglion Cell Neuroprotection
Camacho, D. K., Go, C. C., Chaqour, B., Shindler, K. S., & Ross, A. G. (2023) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000001955 · Cited by 4
Functional Vision in Patients With Biallelic USH2A Variants
Héon, E., Melia, M., Bocchino, L. E., Samarakoon, L., Duncan, J. L., Ayala, A. R., Audo, I. S., Bradley, C., Cheetham, J. K., Dagnelie, G., et al. (2023) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2023.12.009 · Cited by 4
Xie, M., Wang, L., Deng, Y., Ma, K., Yin, H., Zhang, X., Xiang, X., & Tang, J. (2024) · Journal of Ophthalmology · doi:10.1155/2024/5487973 · Cited by 4
Ma, G., Xu, Z., Li, C., Zhou, F., Hu, B. T., Guo, J., Ke, C., Chen, L., Zhang, G., Lau, H., et al. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1451433 · Cited by 5
Real-world outcomes of Voretigene Neparvovec: a single-centre consecutive case series
Jalil, A., Ferrara, M., Lippera, M., Parry, N. R. A., Black, G. C. M., Banderas, S., Ashworth, J. L., Biswas, S., Hall, G., Gray, J., et al. (2025) · Eye · doi:10.1038/s41433-025-03637-0 · Cited by 4
Latasiewicz, M., Salvetti, A. P., & MacLaren, R. E. (2017) · Ophthalmic Genetics · doi:10.1080/13816810.2017.1313994 · Cited by 4
CRISPR in the Retina: Evaluation of Future Potential
Cho, G. Y., Justus, S., Sengillo, J. D., & Tsang, S. H. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-63904-8_8 · Cited by 4
DNA- and RNA-based Gene Therapies in Ophthalmology
Ciulla, T. A., Pennesi, M. E., Kiss, S., & Cunningham, E. T. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000359 · Cited by 4
Zhang, L., Qi, J., Fang, Y., Tan, F., Zhou, Y., Zhang, Z., Sun, Q., Li, N., Huang, Y., Sun, J., et al. (2023) · Engineered Regeneration · doi:10.1016/j.engreg.2023.04.003 · Cited by 4
Self-citationBrunetti‐Pierri, N. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817344-2.00030-7 · Cited by 4
Genes and Gene Therapy in Inherited Retinal Disease
Shughoury, A., Ciulla, T. A., Bakall, B., Pennesi, M. E., Kiss, S., & Cunningham, E. T. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000377 · Cited by 4
Saidasheva, E. I., Кадышев, В. В., Brzheskiy, V. V., Malinovskaya, N. A., & Shefer, K. К. (2022) · Russian Ophthalmological Journal · doi:10.21516/2072-0076-2022-15-1-113-116 · Cited by 4
Molecular biology tools for the study and therapy of PDE6β mutations
Bitoque, D. B., & Silva, G. A. (2018) · Journal of Biotechnology · doi:10.1016/j.jbiotec.2018.07.030 · Cited by 4
Karuntu, J. S., Tulp, S. B. A. E., & Boon, C. J. F. (2025) · Acta Ophthalmologica · doi:10.1111/aos.17532 · Cited by 3
Innovative bioseparation technologies employing thermoresponsive polymer interfaces
Nagase, K. (2025) · Polymer Journal · doi:10.1038/s41428-025-01117-6 · Cited by 3
Miniaturized CRISPR: Ultra Compact Systems for In Vivo Delivery and Portable Diagnostics
Saxena, S., Saxena, S., & Gupta, D. (2026) · Annals of Biomedical Engineering · doi:10.1007/s10439-026-04046-4 · Cited by 3
Han, X., Zhu, Z., Song, Z., Liu, G., Yin, X., Shen, J., Xue, J., Wu, K., Luo, X., Cui, Z., et al. (2026) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2026.03.042 · Cited by 3
Gene Therapy: Use of Viruses as Vectors
Nance, M. E., & Duan, D. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.95711-8 · Cited by 3
Gene Therapy for Retinal Diseases
Gopinath, C., Sarkar, S., & Ghosh, A. (2021) · Essentials in ophthalmology/Essentials ophthalmology · doi:10.1007/978-981-15-9184-6_30 · Cited by 3
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
Kalatzis, V., Roux, A., & Meunier, I. (2021) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-021-00558-y · Cited by 4
Nadvar, N., Stiles, N. R. B., Choupan, J., Patel, V. R., Ameri, H., Shi, Y., Liu, Z., Jonides, J. J., & Weiland, J. D. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.902866 · Cited by 3
Gene therapies in pediatric ophthalmology
Daruich, A., Robert, M. P. A., & Brémond‐Gignac, D. (2023) · Frontiers in Ophthalmology · doi:10.3389/fopht.2023.1188522 · Cited by 3
Chekuri, A. K., Kondabolu, K., Kirchner, E. G., Koli, S., Chagnon, M., Krasniqi, D., Stern, M. E., Bolduc, J., Romano, G., Pagani, F., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102788 · Cited by 3
Toward the Clinical Application of Therapeutic Angiogenesis Against Pediatric Ischemic Retinopathy
Jo, D. H., & Kim, J. H. (2020) · Journal of Lipid and Atherosclerosis · doi:10.12997/jla.2020.9.2.268 · Cited by 3
Bellingrath, J.-S., McClements, M. E., Shanks, M. E., Clouston, P., Fischer, M. D., & MacLaren, R. E. (2022) · Ophthalmic Genetics · doi:10.1080/13816810.2022.2073599 · Cited by 3
Gene therapy in hereditary retinal dystrophy
Chien, J.-Y., & Huang, S. (2022) · Tzu Chi Medical Journal · doi:10.4103/tcmj.tcmj_78_22 · Cited by 4
Modulating the activity of human nociceptors with a SCN10A promoter-specific viral vector tool
Mouchbahani-Constance, S., Lagard, C., Schweizer, J., Labonté, I., Georgiopoulos, M., Otis, C., Louis, M. S., Troncy, É., Sarret, P., Ribeiro‐da‐Silva, A., et al. (2023) · Neurobiology of Pain · doi:10.1016/j.ynpai.2023.100120 · Cited by 5
[Research progress of gene therapy in clinical application].
Chen, X., Chen, L., & Li, D. (2019) · PubMed · doi:10.13345/j.cjb.190363 · Cited by 3
Do we need marker gene studies in humans to improve clinical AAV gene therapy?
Weber, T. (2017) · Gene Therapy · doi:10.1038/gt.2016.84 · Cited by 3
Re-administration of AAV-mediated gene therapy for OTOF-related deafness: a single-arm trial
Fan, X., Zhang, L., Gao, Z., Han, L., Yang, P., Wang, D., Yu, H., Cao, Q., Jiang, L., Chen, X., et al. (2026) · Nature Medicine · doi:10.1038/s41591-026-04505-4 · Cited by 2
Nagiel, A., Russell, S. R., Lam, B. L., Comander, J., Alemán, T. S., Besirli, C. G., Sisk, R. A., Yang, P. G., Weng, C. Y., Chung, D. C., et al. (2026) · Ophthalmology · doi:10.1016/j.ophtha.2026.07.007 · Cited by 2
Self-citationLan, Y., Chen, Y., Qiao, Y., Xu, Q., Zhai, R., Sun, X., Wu, J., & Chen, X. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11226682 · Cited by 2
Update on gene therapies in pediatric ophthalmology
Brémond‐Gignac, D., Robert, M. P. A., & Daruich, A. (2023) · Archives de Pédiatrie · doi:10.1016/s0929-693x(23)00226-9 · Cited by 2
Gene therapy in the early stages of retinal degeneration
MacLaren, R. E. (2024) · The Lancet · doi:10.1016/s0140-6736(24)01853-1 · Cited by 2
Dell’Aquila, F., Cunto, R. D., Marrocco, E., Prete, E. D., D’Alessio, A. M., Stefano, L. D., Notaro, S., Nusco, E., & Auricchio, A. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.10.019 · Cited by 2
Self-citationBirch, D. G., Cheng, P., Maguire, M. G., Duncan, J. L., Ayala, A. R., Cheetham, J. K., Doucet, N. R., Durham, T. A., Fahim, A. T., Ferris, F. L., et al. (2024) · Ophthalmology Science · doi:10.1016/j.xops.2024.100648 · Cited by 2
Emerging Gene Therapy Treatments for Inherited Retinal Diseases
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Šandová, J. K. (2023) · LINGUISTICA SILESIANA · doi:10.24425/linsi.2017.117053 · Cited by 2
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Rotov, A. Y., Nikolaeva, D. A., Astakhova, L. A., & Firsov, M. L. (2020) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-020-00911-4 · Cited by 2
Daruich, A., Boinet, R., Falcou, C., Cotteret, C., Magassa, A., Schlatter, J., Escalup, R., Cisternino, S., Valleix, S., Robert, M. P. A., et al. (2021) · Journal Français d Ophtalmologie · doi:10.1016/j.jfo.2020.10.014 · Cited by 2
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Camp, D. A., Falabella, P., & Ciulla, T. A. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000381 · Cited by 2
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Mendell, J. R. (2020) · Human Gene Therapy · doi:10.1089/hum.2019.29103.jrm · Cited by 2
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Franzè, A., Miceli, M., VECCHIO, V. D., Auletta, G., Laria, C., Malesci, R., & Marciano, E. (2021) · Otorhinolaryngology · doi:10.23736/s2724-6302.21.02381-1 · Cited by 1
Ashour, A. M., Harbi, M. H., Alshehri, F. S., Wali, S. M., Aldurdunji, M. M., & Alorfi, N. M. (2025) · Journal of Multidisciplinary Healthcare · doi:10.2147/jmdh.s539699 · Cited by 1
Asboth, B., Sanrocco, A., Besztercei, B., Lesch, B., Takács, Á. I., Vámos, R., Varsányi, B., Végh, A., Knézy, K., Szabó, V., et al. (2025) · Genes · doi:10.3390/genes16101212 · Cited by 1
Ren, D., Chauveau, G. A., Cabon, E., Vendomèle, J., Vignal‐Clermont, C., Saliba, H., Ail, D., Dalkara, D., & Fisson, S. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101443 · Cited by 1
Hurnikova, J., Venkatesan, J. K., Liu, W., Madry, H., Cucchiarini, M., & Petrovová, E. (2026) · SLAS TECHNOLOGY · doi:10.1016/j.slast.2026.100404 · Cited by 1
Кадышев, В. В., Stepanova, A. V., Shefer, K. К., Kondrashina, I. V., & Shchagina, O. A. (2026) · Russian Annals of Ophthalmology · doi:10.17116/oftalma202614201170 · Cited by 1
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Uyhazi, K. E., O'Neil, E. C., Alemán, T. S., & Cideciyan, A. V. (2026) · The Lancet · doi:10.1016/s0140-6736(26)00766-x · Cited by 1
Cui, M., Liu, H., Cai, L., Zhang, Q., Yuan, L., Gao, C., Li, C., Xi, J., Li, Y., Wu, C., et al. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201806 · Cited by 1
Wu, S., Xue, L., Li, X., Wang, Y., Zhu, Y., Luo, Y., Sun, J., Jin, T., Shu, W., & Wang, Z. (2025) · Immunologic Research · doi:10.1007/s12026-025-09609-6 · Cited by 1
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Elsayed, M. E. A. A., & MacLaren, R. E. (2026) · Genes · doi:10.3390/genes17030283 · Cited by 1
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Mallick, A., Belin, P. J., & Lieberman, R. M. (2017) · Advances in Ophthalmology and Optometry · doi:10.1016/j.yaoo.2017.03.009 · Cited by 2
Recent Developments in Maculopathy
Bandello, F. M., Battista, M., Brambati, M., Starace, V., Arrigo, A., & Parodi, M. B. (2019) · Springer eBooks · doi:10.1007/978-3-030-25389-9_6 · Cited by 1
Endpoints for Measuring Efficacy in Clinical Trials for Inherited Retinal Disease
Chung, D. C., Birch, D. G., & MacLaren, R. E. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000388 · Cited by 1
Self-citationWorgall, S., & Crystal, R. G. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818422-6.00029-0 · Cited by 1
Gene therapies for retinal dystrophies: potential in the Chinese population
Kwok, A. K. H., & Wong, H. L. (2022) · Hong Kong Journal of Ophthalmology · doi:10.12809/hkjo-v26n1-324 · Cited by 1
Ciccioli, M., & Antacle, A. (2024) · Oftalmología clínica y experimental. · doi:10.70313/2718.7446.v17.n01.284 · Cited by 1
Metadata
- Authors
- Bennett, J., Wellman, J., Marshall, K. A., McCague, S., Ashtari, M., DiStefano-Pappas, J., Elci, O. U., Chung, D. C., Sun, J., Wright, J. F., Cross, D. R., Aravand, P., Cyckowski, L. L., Bennicelli, J. L., Mingozzi, F., Auricchio, A., Pierce, E. A., Ruggiero, J., Leroy, B. P., Simonelli, F., High, K. A., & Maguire, A. M.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Spark Therapeutics (United States) (US)
- University of Pennsylvania (US)
- Federico II University Hospital (IT)
- Massachusetts Eye and Ear Infirmary (US)
- University of Campania "Luigi Vanvitelli" (IT)
- Corresponding author
- Bennett, Jean
- ORCID
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2016-08
- Volume
- 388
- Issue
- 10045
- Pages
- 661-672
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- PMC
- PMC5351775
- OpenAlex
- W2473832992
- Cited by
- 461
- References
- 29
- Citations by year
- 2026: 28 · 2025: 32 · 2024: 31 · 2023: 41 · 2022: 50 · 2021: 54 · 2020: 66 · 2019: 38 · 2018: 55 · 2017: 56 · 2016: 8
- FWCI
- 27.19
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- Funders
- FWO Flanders (grant OZP 3G004306)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- RPE65 mutations, inherited retinal disease, subretinal gene therapy, recombinant adeno-associated virus vectors, immune response, visual function, mobility, visual cortex activation, pediatric patients
- MeSH terms
- Retinoid Isomerohydrolase, Dependovirus, Adolescent, Adult, Blindness, Child, Female, Follow-Up Studies, Genetic Vectors, Humans, Male, Middle Aged, Mutation, Occipital Lobe, Vision, Ocular, Genetic Therapy, Linear Models, Age of Onset, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, Retreatment, Evidence-Based Medicine, cis-trans-Isomerases, Injections, Intraocular, Administration, Ophthalmic, Patient Safety
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