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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
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“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
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Items 101–200 of 463
Fakhiri, J., Schneider, M. A., Puschhof, J., Stanifer, M. L., Schildgen, V., Holderbach, S., Voß, Y., Andari, J. E., Schildgen, O., Boulant, S., et al. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.01.003 · Cited by 58
Dyka, F. M., Molday, L. L., Chiodo, V. A., Molday, R. S., & Hauswirth, W. W. (2019) · Human Gene Therapy · doi:10.1089/hum.2019.132 · Cited by 56
Gene Replacement Therapy: A Primer for the Health-system Pharmacist
Petrich, J., Marchese, D., Jenkins, C., Storey, M., & Blind, J. E. (2019) · Journal of Pharmacy Practice · doi:10.1177/0897190019854962 · Cited by 58
Kidney organoids in translational medicine: Disease modeling and regenerative medicine
Miyoshi, T., Hiratsuka, K., Saiz, E. G., & Morizane, R. (2019) · Developmental Dynamics · doi:10.1002/dvdy.22 · Cited by 57
Next-generation AAV vectors for clinical use: an ever-accelerating race
Weinmann, J., & Grimm, D. (2017) · Virus Genes · doi:10.1007/s11262-017-1502-7 · Cited by 54
McDougald, D. S., Dine, K. E., Zezulin, A. U., Bennett, J., & Shindler, K. S. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22972 · Cited by 54
Self-citationHas retinal gene therapy come of age? From bench to bedside and back to bench
Trapani, I., & Auricchio, A. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz130 · Cited by 55
Self-citationDonadon, I., Pinotti, M., Rajkowska, K., Pianigiani, G., Barbon, E., Morini, E., Motaln, H., Rogelj, B., Mingozzi, F., Slaugenhaupt, S. A., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy151 · Cited by 50
Self-citationLaradji, A. M., Kolesnikov, A. V., Karakoçak, B. B., Kefalov, V. J., & Ravi, N. (2021) · ACS Omega · doi:10.1021/acsomega.0c05535 · Cited by 50
Chandler, L., Yusuf, I., McClements, M., Barnard, A., MacLaren, R., & Xue, K. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21144972 · Cited by 49
Genome editing in the treatment of ocular diseases
Choi, E. H., Suh, S., Sears, A. E., Hołubowicz, R., KEDHAR, S. R., Browne, A., & Palczewski, K. (2023) · Experimental & Molecular Medicine · doi:10.1038/s12276-023-01057-2 · Cited by 51
Reid, C. A., Ertel, K. J., & Lipinski, D. M. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22281 · Cited by 49
Therapy with voretigene neparvovec. How to measure success?
Stingl, K., Kempf, M., Jung, R., Kortüm, F., Righetti, G., Reith, M., Dimopoulos, S., Ott, S., Kohl, S., & Stingl, K. (2023) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101115 · Cited by 48
Wang, J.-H., Zhan, W., Gallagher, T. L., & Gao, G. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.10.017 · Cited by 51
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Ji, C., Li, Y., Kittredge, A., Hopiavuori, A. R., Ward, N., Yao, P., Fukuda, Y., Zhang, Y., Tsang, S. H., & Yang, T. (2019) · Scientific Reports · doi:10.1038/s41598-019-54892-7 · Cited by 47
Ashtari, M., Nikonova, E. S., Marshall, K. A., Young, G. J., Aravand, P., Pan, W., Ying, G., Willett, A. E., Mahmoudian, M., Maguire, A. M., et al. (2017) · Ophthalmology · doi:10.1016/j.ophtha.2017.01.029 · Cited by 45
Self-citationGuilbaud, M., Devaux, M., Couzinié, C., Duff, J. L., Toromanoff, A., Vandamme, C., Jaulin, N., Gernoux, G., Larcher, T., Moullier, P., et al. (2019) · Human Gene Therapy · doi:10.1089/hum.2018.234 · Cited by 45
Ratican, S., Osborne, A., & Martin, K. R. G. (2018) · Neural Plasticity · doi:10.1155/2018/7108948 · Cited by 45
How will the field of gene therapy survive its success?
Kaemmerer, W. F. (2018) · Bioengineering & Translational Medicine · doi:10.1002/btm2.10090 · Cited by 45
Delivering AAV to the Central Nervous and Sensory Systems
Peters, C. W., Maguire, C. A., & Hanlon, K. S. (2021) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2021.03.004 · Cited by 44
Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina
Chandler, L. C., McClements, M. E., Yusuf, I. H., Martinez-Fernandez de la Camara, C., MacLaren, R. E., & Xue, K. (2021) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2021.05.011 · Cited by 43
Sodi, A., Banfi, S., Testa, F., Corte, M. D., Passerini, I., Pelo, E., Rossi, S., Simonelli, F., & Italian IRD Working Group (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01868-4 · Cited by 44
Self-citationPersonalised genome editing – The future for corneal dystrophies
Moore, T., Christie, K. A., Marshall, J., & Nesbit, M. A. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.01.004 · Cited by 44
Wang, C., Sun, W., Ling, S., Wang, Y., Wang, X., Meng, H., Li, Y., Yuan, X., Liu, R., Liu, R., et al. (2019) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2019.09.030 · Cited by 42
Stingl, K. T., Kempf, M., Bartz‐Schmidt, K. U., Dimopoulos, S., Reichel, F. F., Jung, R., Kelbsch, C., Kohl, S., Kortüm, F. C., Nasser, F., et al. (2021) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2020-318286 · Cited by 43
Li, S., & Jakobs, T. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111880 · Cited by 44
Focused Update on AAV-Based Gene Therapy Clinical Trials for Inherited Retinal Degeneration
Fuller-Carter, P. I., Basiri, H., Harvey, A. R., & Carvalho, L. S. (2020) · BioDrugs · doi:10.1007/s40259-020-00453-8 · Cited by 41
Mitrović, M. M., Selaković, D., Jovicic, N. U., Ljujić, B., & Rosic, G. L. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26104926 · Cited by 42
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MacLachlan, T. K., Milton, M. N., Turner, O., Tukov, F., Choi, V. W., Penraat, J., Hanks, S. M., Vrouvlianis, J., Leehy, B., Li, H., et al. (2018) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2017.12.001 · Cited by 40
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?
Ail, D., Malki, H., Zin, E. A., & Dalkara, D. (2023) · The Application of Clinical Genetics · doi:10.2147/tacg.s383453 · Cited by 40
The genetic landscape and possible therapeutics of neurofibromatosis type 2
Ghalavand, M. A., Asghari, A., Farhadi, M. R., Taghizadeh‐Hesary, F., Garshasbi, M., & Falah, M. (2023) · Cancer Cell International · doi:10.1186/s12935-023-02940-8 · Cited by 40
Xu, X., Wang, S., Jin, Y., Hu, Y., Feng, K., & Ma, Z. (2017) · Journal of Pineal Research · doi:10.1111/jpi.12428 · Cited by 38
Outcome Measures Used in Ocular Gene Therapy Trials: A Scoping Review of Current Practice
Jolly, J. K., Bridge, H., & MacLaren, R. E. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.01076 · Cited by 38
Retinal gene therapy: an eye-opener of the 21st century
Askou, A. L., Jakobsen, T. S., & Corydon, T. J. (2020) · Gene Therapy · doi:10.1038/s41434-020-0168-2 · Cited by 38
Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy
Kang, C., & Scott, L. J. (2020) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-020-00475-6 · Cited by 40
Ballon, D., Rosenberg, J. B., Fung, E. K., Nikolopoulou, A., Kothari, P. J., De, B. P., He, B., Chen, A., Heier, L., Sondhi, D., et al. (2020) · Human Gene Therapy · doi:10.1089/hum.2020.116 · Cited by 40
Hashida, N., & Nishida, K. (2023) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2023.114870 · Cited by 37
Correction of Monogenic and Common Retinal Disorders with Gene Therapy
Sengillo, J. D., Justus, S., Cabral, T., & Tsang, S. H. (2017) · Genes · doi:10.3390/genes8020053 · Cited by 39
Charng, J., Cideciyan, A. V., Jacobson, S. G., Sumaroka, A., Schwartz, S., Świder, M., Román, A. J., Sheplock, R., Anand, M., Peden, M. C., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw361 · Cited by 36
Gene manipulation in liver ductal organoids by optimized recombinant adeno-associated virus vectors
Wei, J., Ran, G., Wang, X., Jiang, N., Liang, J., Lin, X., Ling, C., & Zhao, B. T. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.008616 · Cited by 37
Sobh, M., Lagali, P. S., Ghiasi, M., Montroy, J. R., Dollin, M. L., Hurley, B. R., Leonard, B. C., Dimopoulos, I. S., Lafreniere, M., Fergusson, D. A., et al. (2023) · Translational Vision Science & Technology · doi:10.1167/tvst.12.11.24 · Cited by 35
Testa, F., Bacci, G. M., Falsini, B., Iarossi, G., Melillo, P., Mucciolo, D. P., Murro, V., Salvetti, A. P., Sodi, A., Staurenghi, G., et al. (2024) · Eye · doi:10.1038/s41433-024-03065-6 · Cited by 35
Self-citationSanjurjo-Soriano, C., & Kalatzis, V. (2018) · Neural Plasticity · doi:10.1155/2018/5056279 · Cited by 38
Ilaltdinov, A. W., Gong, Y., Leong, D. J., Gruson, K. I., Zheng, D., Fung, D. T. H., Sun, L., & Sun, H. B. (2020) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14382 · Cited by 35
A novel retinal ganglion cell promoter for utility in AAV vectors
Hanlon, K. S., Chadderton, N., Palfi, A., Blanco Fernandez, A., Humphries, P., Kenna, P. F., Millington-Ward, S., & Farrar, G. J. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00521 · Cited by 34
Ross, A. G., McDougald, D. S., Khan, R. S., Duong, T. T., Dine, K. E., Aravand, P., Bennett, J., Chavali, V. R. M., & Shindler, K. S. (2021) · Gene Therapy · doi:10.1038/s41434-021-00219-z · Cited by 34
Self-citationWang, J., Zhang, J., Yu, S., Li, H., Chen, S., Luo, J., Wang, H., Guan, Y., Zhang, H., Yin, S., et al. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01806-3 · Cited by 34
Quirin, K. A., Kwon, J. J., Alioufi, A., Factora, T. D., Temm, C. J., Jacobsen, M. H., Sandusky, G. E., Shontz, K., Chicoine, L. G., Clark, K. R., et al. (2017) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2017.09.006 · Cited by 35
Choroideremia: molecular mechanisms and development of AAV gene therapy
Patrício, M. I., Barnard, A. R., Xue, K., & MacLaren, R. E. (2018) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2018.1484448 · Cited by 34
Xiang, Z., Kuranda, K., Quinn, W. J., Chekaoui, A., Ambrose, R., Hasanpourghadi, M., Novikov, M., Newman, D., Cole, C., Zhou, X., et al. (2022) · Human Gene Therapy · doi:10.1089/hum.2021.258 · Cited by 36
Self-citationDuong, T. T., Lim, J., Vasireddy, V., Papp, T., Nguyen, H., Leo, L., Pan, J., Zhou, S., Chen, H. I., Bennett, J., et al. (2019) · Stem Cells International · doi:10.1155/2019/7281912 · Cited by 33
Self-citationOrganoids and microphysiological systems: Promising models for accelerating AAV gene therapy studies
Ramamurthy, R. M., Atala, A., Porada, C. D., & Almeida-Porada, G. D. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.1011143 · Cited by 35
High-Throughput Dissection of AAV–Host Interactions: The Fast and the Curious
Herrmann, A.-K., & Grimm, D. (2018) · Journal of Molecular Biology · doi:10.1016/j.jmb.2018.05.022 · Cited by 33
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness
Shahi, P. K., Hermans, D., Sinha, D., Brar, S., Moulton, H. M., Stulo, S., Borys, K. D., Capowski, E. E., Pillers, D. M., Gamm, D. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.12.019 · Cited by 32
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Wood, E. H., Tang, P. H., la Huerta, I. D., Korot, E., Muscat, S. P., Palanker, D., & Williams, G. A. (2019) · Retina · doi:10.1097/iae.0000000000002449 · Cited by 34
Nuzbrokh, Y., Kassotis, A. S., Ragi, S. D., Jauregui, R., & Tsang, S. H. (2020) · Ophthalmology and Therapy · doi:10.1007/s40123-020-00287-1 · Cited by 31
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Padhy, S. K., Takkar, B., Narayanan, R., Venkatesh, P., & Jalali, S. (2020) · The Application of Clinical Genetics · doi:10.2147/tacg.s230720 · Cited by 32
dCas9-VPR-mediated transcriptional activation of functionally equivalent genes for gene therapy
Riedmayr, L. M., Hinrichsmeyer, K. S., Karguth, N., Böhm, S., Splith, V., Michalakis, S., & Bećirović, E. (2022) · Nature Protocols · doi:10.1038/s41596-021-00666-3 · Cited by 33
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Arbabi, A., Liu, A., & Ameri, H. (2019) · Journal of Ocular Pharmacology and Therapeutics · doi:10.1089/jop.2018.0087 · Cited by 30
Wiley, L. A., Boyce, T. M., Meyering, E. E., Ochoa, D., Sheehan, K. M., Stone, E. M., Mullins, R. F., Tucker, B. A., & Han, I. C. (2023) · Human Gene Therapy · doi:10.1089/hum.2022.222 · Cited by 30
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Ducloyer, J., Meur, G. L., Cronin, T., Adjali, O., & Weber, M. (2020) · médecine/sciences · doi:10.1051/medsci/2020095 · Cited by 30
Benn, J., Mukadam, A. S., & McEwan, W. A. (2021) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2021.09.012 · Cited by 31
Fahim, A. T., Bouzia, Z., Branham, K. E. H., Kumaran, N., Vargas, M. E., Feathers, K. L., Perera, N. D., Young, K. Z., Khan, N., Heckenlively, J. R., et al. (2019) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2018-313580 · Cited by 29
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Jalligampala, A., Sekhar, S., Zrenner, E., & Rathbun, D. L. (2017) · Journal of Neural Engineering · doi:10.1088/1741-2552/14/2/026004 · Cited by 29
Gene therapy for inherited retinal degenerations: initial successes and future challenges
Gupta, P. R., & Huckfeldt, R. M. (2017) · Journal of Neural Engineering · doi:10.1088/1741-2552/aa7a27 · Cited by 32
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Astuti, G., van den Born, L., Khan, M. I., Hamel, C., Bocquet, B., Manès, G., Quinodoz, M., Ali, M., Toomes, C., McKibbin, M., et al. (2018) · Genes · doi:10.3390/genes9010021 · Cited by 29
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Jauze, L., Monteillet, L., Mithieux, G., Rajas, F., & Ronzitti, G. (2019) · Human Gene Therapy · doi:10.1089/hum.2019.102 · Cited by 34
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Ling, J. P., Bygrave, A. M., Santiago, C. P., Carmen‐Orozco, R. P., Trinh, V., Yu, M., Li, Y., Liu, Y., Bowden, K. D., Duncan, L. H., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33523-2 · Cited by 30
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Zhao, Q., Peng, H., Ma, Y., Yuan, H., & Jiang, H. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03893-z · Cited by 30
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Dooley, S. J., McDougald, D. S., Fisher, K. J., Bennicelli, J. L., Mitchell, L. G., & Bennett, J. (2018) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2018.05.014 · Cited by 29
Self-citationWang, Z., Cheng, F., Engelhardt, J. F., Yan, Z., & Qiu, J. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.09.005 · Cited by 29
Compensatory Cross-Modal Plasticity Persists After Sight Restoration
Mowad, T. G., Willett, A. E., Mahmoudian, M., Lipin, M. Y., Heinecke, A., Maguire, A. M., Bennett, J., & Ashtari, M. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00291 · Cited by 29
Self-citationA clinically viable approach to restoring visual function using optogenetic gene therapy
Yan, B., Viswanáthan, S., Brodie, S. E., Deng, W., Coleman, K. E., Hauswirth, W. W., & Nirenberg, S. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.05.005 · Cited by 28
Biswas, M., Marsic, D., Li, N., Zou, C., González‐Aseguinolaza, G., Zolotukhin, I., Kumar, S. R. P., Rana, J., Butterfield, J. S. S., Kondratov, O., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.09.019 · Cited by 28
Safety of same-eye subretinal sequential readministration of AAV2-hRPE65v2 in non-human primates
Weed, L., Ammar, M. J., Zhou, S., Wei, Z., Serrano, L. W., Sun, J., Lee, V., Maguire, A. M., Bennett, J., & Aleman, T. S. (2019) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2019.08.011 · Cited by 27
Self-citationLee, S., Kang, I. K., Kim, J. H., Jung, B. K., Park, K., Chang, H., Lee, J. Y., & Lee, H. (2019) · Translational Vision Science & Technology · doi:10.1167/tvst.8.2.14 · Cited by 27
Full-field stimulus threshold testing: a scoping review of current practice
Shi, L., Hall, A. J., & Thompson, D. (2023) · Eye · doi:10.1038/s41433-023-02636-3 · Cited by 27
Smith-Moore, S., Neil, S. J. D., Fraefel, C., Linden, R. M., Bollen, M., Rowe, H. M., & Henckaerts, E. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1721883115 · Cited by 27
The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease
Velazquez, L. A. M., & Ballios, B. G. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222111542 · Cited by 27
Nuzzi, R., & Tridico, F. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00494 · Cited by 27
Daruich, A., Rateaux, M., Batté, E., de Vergnes, N., Valleix, S., Robert, M. P. A., & Brémond‐Gignac, D. (2024) · British Journal of Ophthalmology · doi:10.1136/bjo-2024-326221 · Cited by 26
Iorio, V. D., Karali, M., Brunetti‐Pierri, R., Filippelli, M., Fruscio, G. D., Pizzo, M., Mutarelli, M., Nigro, V., Testa, F., Banfi, S., et al. (2017) · Genes · doi:10.3390/genes8100280 · Cited by 26
Self-citationUhrmann, M. F., Lorenz, B., & Gissel, C. (2020) · Translational Vision Science & Technology · doi:10.1167/tvst.9.9.17 · Cited by 26
Menzie, J., Modi, J. P., Xu, H., Bent, A., Trujillo, P., Medley, K., Jimenez, E., Shen, J., Marshall, M., Tao, R., et al. (2020) · Journal of Biomedical Science · doi:10.1186/s12929-020-00692-5 · Cited by 25
Nagase, K., Kitazawa, S., 小暮, 利., Yamada, S., Katayama, K., & Kanazawa, H. (2022) · Separation and Purification Technology · doi:10.1016/j.seppur.2022.120445 · Cited by 25
ISCEV and IPS guideline for the full-field stimulus test (FST)
Jolly, J. K., Grigg, J., McKendrick, A. M., Fujinami, K., Cideciyan, A. V., Thompson, D., Matsumoto, C., Asaoka, R., Johnson, C. A., Dul, M. W., et al. (2024) · Documenta Ophthalmologica · doi:10.1007/s10633-023-09962-7 · Cited by 25
Recent Progress in Photoreceptor Cell-Based Therapy for Degenerative Retinal Disease
Klymenko, V., Martinez, O. G. G., & Zarbin, M. A. (2024) · Stem Cells Translational Medicine · doi:10.1093/stcltm/szae005 · Cited by 26
Rare Diseases: Drug Discovery and Informatics Resource
Zhao, M., & Wei, D. (2017) · Interdisciplinary Sciences Computational Life Sciences · doi:10.1007/s12539-017-0270-3 · Cited by 26
Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease
Kovacs, K. D., Patel, S. C., Orlin, A., Kim, K., Everen, S. A. V., Conner, T., Sondhi, D., Kaminsky, S. M., D’Amico, D. J., Crystal, R. G., et al. (2020) · Ophthalmology Retina · doi:10.1016/j.oret.2020.01.011 · Cited by 25
Talib, M., van Schooneveld, M. J., Wijnholds, J., van Genderen, M. M., Schalij-Delfos, N. E., Talsma, H. E., Florijn, R. J., ten Brink, J. B., Cremers, F. P. M., Thiadens, A. A. H. J., et al. (2021) · Acta Ophthalmologica · doi:10.1111/aos.14597 · Cited by 25
Bennett, J., & Maguire, A. M. (2022) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041307 · Cited by 25
Self-citationViral-vector-delivered anti-angiogenic therapies to the eye
Koponen, S., Kokki, E., Kinnunen, K., & Ylä-Herttuala, S. (2021) · Pharmaceutics · doi:10.3390/pharmaceutics13020219 · Cited by 24
Petit, L., Ma, S., Cheng, S.-Y., Gao, G., & Punzo, C. (2017) · Human Gene Therapy · doi:10.1089/hum.2017.020 · Cited by 24
Purdy, R., John, M., Bray, A., Clare, A. J., Copland, D. A., Chan, Y. K., Henderson, R. H., Nerinckx, F., Leroy, B. P., Yang, P., et al. (2025) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2025.101354 · Cited by 24
“…gene therapy have received some combination of standard post-vitrectomy topical corticosteroid drops, with or without local depot, and a tapering course of systemic corticosteroids over 14 – 21 days around the time of treatment (Bennett et al., 2016; Fischer et al., 2019; MacLaren et al., 2023).”
InfluentialSelf-citationDzhemileva, L. U., Захарова, Е. Н., Goncharenko, A. O., Vorontsova, M. V., Roumiantsev, S. A., Mokrysheva, N. G., Loguinova, M. Y., & Chekhonin, V. P. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1497298 · Cited by 24
Farmer, C., Bullement, A., Packman, D., Long, L., Robinson, S., Nikram, E., Hatswell, A. J., Meléndez‐Torres, G. J., & Crathorne, L. (2020) · PharmacoEconomics · doi:10.1007/s40273-020-00953-z · Cited by 24
Ross, A. G., Chaqour, B., McDougald, D. S., Dine, K. E., Duong, T. T., Shindler, R. E., Yue, J., Liu, T., & Shindler, K. S. (2022) · Biomolecules · doi:10.3390/biom12060830 · Cited by 24
Current AAV-mediated gene therapy in sensorineural hearing loss
Qi, J., Fu, X., Zhang, L., Tan, F., Li, N., Sun, Q., Hu, X., He, Z., Xia, M., & Chai, R. (2022) · Fundamental Research · doi:10.1016/j.fmre.2022.08.015 · Cited by 24
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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