Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Open accessAbstract
Background Gene therapy has the potential to reverse disease or prevent further deterioration of vision in patients with incurable inherited retinal degeneration. We therefore did a phase 1 trial to assess the effect of gene therapy on retinal and visual function in children and adults with Leber's congenital amaurosis.Methods We assessed the retinal and visual function in 12 patients (aged 8-44 years) with RPE65-associated Leber's congenital amaurosis given one subretinal injection of adeno-associated virus (AAV) containing a gene encoding a protein needed for the isomerohydrolase activity of the retinal pigment epithelium (AAV2-hRPE65v2) in the worst eye at low (1.5 x 10(10) vector genomes), medium (4.8 x 10(10) vector genomes), or high dose (1.5 x 10(11) vector genomes) for up to 2 years.Findings AAV2-hRPE65v2 was well tolerated and all patients showed sustained improvement in subjective and objective measurements of vision (ie, dark adaptometry, pupillometry, electroretinography, nystagmus, and ambulatory behaviour). Patients had at least a 2 log unit increase in pupillary light responses, and an 8-year-old child had nearly the same level of light sensitivity as that in age-matched normal-sighted individuals. The greatest improvement was noted in children, all of whom gained ambulatory vision. The study is registered with ClinicalTrials.gov, number NCT00516477.Interpretation The safety, extent, and stability of improvement in vision in all patients support the use of AAV-mediated gene therapy for treatment of inherited retinal diseases, with early intervention resulting in the best potential gain.Funding Center for Cellular and Molecular Therapeutics at the Children's Hospital of Philadelphia, Foundation Fighting Blindness, Telethon, Research to Prevent Blindness, F M Kirby Foundation, Mackall Foundation Trust, Regione Campania Convenzione, European Union, Associazione Italiana Amaurosi Congenita di Leber, Fund for Scientific Research, Fund for Research in Ophthalmology, and National Center for Research Resources.
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Subretinal AAV2 RPE65 trials in LCA showed sustained improvement in subjective and objective vision in over 30 patients.
“during Phase I/II clinical trials for Leber's congenital amaurosis (LCA), over 30 patients who received a subretinal injection of AAV2 encoding RPE65, an enzyme responsible for the isomerohydrolase activity of retinal pigment epithelium, showed sustained improvement in both subjective and objective measurements of vision.8–14”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [12]
The Abstract (Methods and Findings) describes subretinal AAV2-hRPE65v2 treatment and sustained improvement in subjective and objective vision measures. But this trial enrolled 12 patients, not over 30; this paper alone does not establish the citing sentence’s aggregate patient count across the cited trials. (LLM, conf=0.88)
Experimental — accuracy not yet measuredPosterior vitreous detachment induction may be difficult in cases of strong adhesion, which may be important for the paediatric population, particularly as these patients stand to benefit most from retinal gene therapy.
“Induction of posterior vitreous detachment (PVD) is routinely performed as part of vitrectomy prior to subretinal vector administra tion but may be difficult in cases of strong adhesion. This may be important for the paediatric population, particularly as these patients stand to benefit most from retinal gene therapy (Maguire et al., 2009).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Maguire et al., 2009
The Discussion reports that young patients had the greatest overall improvement in vision after subretinal gene therapy, supporting the claim that paediatric patients may benefit most. The Methods describe vitrectomy and removal of the posterior cortical vitreous, but the paper does not say that strong adhesion makes posterior vitreous detachment difficult to induce or link that difficulty to children. Page numbers were not available in our copy. (LLM, conf=0.87)
Experimental — accuracy not yet measuredYoung patients are more likely to suffer from corticosteroid adverse effects given the higher cumulative doses required over a lifetime, yet are also the most likely to benefit from retinal gene therapy.
“Young patients are more likely to suffer given the higher cumulative doses of cortico steroids that will be required over a lifetime, yet are also the most likely to benefit from retinal gene therapy (Maguire et al., 2009).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Maguire et al., 2009
The Discussion (page not provided) says young patients had the greatest overall improvement in vision after subretinal gene therapy. The paper does not address whether younger patients face greater corticosteroid adverse effects because of higher cumulative lifetime doses; searches for corticosteroids and cumulative doses found no supporting passage. (LLM, conf=0.90)
Experimental — accuracy not yet measuredAAV clinical successes to date have involved delivery either to immune privileged regions or to subjects lacking apparent AAV immunological memory.
“As a result, AAV clinical successes to date have involved delivery either to immune privileged regions or to subjects lacking apparent AAV immunological memory.8–14,30,42”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [12]
AAV has been successful in clinical gene therapy trials for LCA, hemophilia, familial lipoprotein lipase deficiency, and choroideremia.
“Adeno-associated virus has been successful in clinical gene therapy trials for Leber's congenital amaurosis, hemophilia, familial lipoprotein lipase deficiency, and choroideremia.8–15,26,27,60,61”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [12]
Higher viral doses most commonly result in an increased antibody response, but several studies present contradicting results.
“Higher viral doses most commonly result in an increased antibody response [8, 16, 38], but several studies present contradicting results, with either no effect of viral dose, or a higher immune response to lower doses of AAV [39–41].”
From Characterization of anti-AAV2 neutralizing antibody levels in sheep prior to and following intravitreal AAV2.7m8 injection (2024) · cites this paper as [40]
The Results (page unavailable) say that subretinal AAV at the doses used did not cause a harmful immune response. They do not report whether antibody responses varied with dose; the stated lack of a clear dose effect concerns visual acuity, not antibodies. Searches for antibody titres and dose-dependent immune responses found no passage addressing that relationship. (LLM, conf=0.72)
Experimental — accuracy not yet measuredPhase I-III trials of Luxturna consistently showed sustained improvements in low-light vision in patients who were otherwise blind.
“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 Maguire 2009
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Cites
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 · see citing works
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 · see citing works
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
Hacein-Bey-Abina, S., Garrigue, A., Wang, G. P., Soulier, J., Lim, A., Morillon, E., Clappier, E., Caccavelli, L., Delabesse, E., Beldjord, K., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35700 · Cited by 1,854 · see citing works
Howe, S. J., Mansour, M. R., Schwarzwaelder, K., Bartholomae, C., Hubank, M., Kempski, H., Brugman, M. H., Pike-Overzet, K., Chatters, S. J., de Ridder, D., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35798 · Cited by 1,286 · see citing works
PTC124 targets genetic disorders caused by nonsense mutations
Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., Paushkin, S. V., Patel, M., Trotta, C. R., Hwang, S., et al. (2007) · Nature · doi:10.1038/nature05756 · Cited by 1,138 · see citing works
Hauswirth, 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 · see citing works
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 · see citing works
Self-citationLeber congenital amaurosis: Genes, proteins and disease mechanisms
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811 · see citing works
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 · see citing works
Self-citationAmplification and kinetics of the activation steps in phototransduction
Pugh, E. N., & Lamb, T. D. (1993) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(93)90038-h · Cited by 649 · see citing works
Simonelli, F., Maguire, A. M., Testa, F., Pierce, E. A., Mingozzi, F., Bennicelli, J. L., Rossi, S., Marshall, K. A., Banfi, S., Surace, E. M., et al. (2009) · Molecular Therapy · doi:10.1038/mt.2009.277 · Cited by 553 · see citing works
Self-citationRPE65 is the isomerohydrolase in the retinoid visual cycle
Moiseyev, G., Chen, Y., Takahashi, Y., Wu, B. X., & Ma, J.-X. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503460102 · Cited by 536 · see citing works
Acland, G. M., Aguirre, G. K., Bennett, J., Alemán, T. S., Cideciyan, A. V., Bennicelli, J. L., Dejneka, N. S., Pearce-Kelling, S. E., Maguire, A. M., Palczewski, K., et al. (2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.08.008 · Cited by 478 · see citing works
Self-citationRpe65 is the retinoid isomerase in bovine retinal pigment epithelium
Jin, M., Li, S., Moghrabi, W. N., Sun, H., & Travis, G. H. (2005) · Cell · doi:10.1016/j.cell.2005.06.042 · Cited by 424 · see citing works
Redmond, T. M., Poliakov, E., Yu, S., Tsai, J.-Y., Lu, Z., & Gentleman, S. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0504167102 · Cited by 409 · see citing works
Self-citationNatural Course of Retinitis Pigmentosa Over a Three-Year Interval
Berson, E. L., Sandberg, M. A., ROSNER, B. A., Birch, D. G., & Hanson, A. H. (1985) · American Journal of Ophthalmology · doi:10.1016/0002-9394(85)90351-4 · Cited by 323 · see citing works
Cideciyan, A. V., Hauswirth, W. W., Aleman, T. S., Kaushal, S., Schwartz, S. B., Boye, S. L., Windsor, E. A. M., Conlon, T. J., Sumaroka, A., Pang, J.-J., et al. (2009) · Human Gene Therapy · doi:10.1089/hum.2009.086 · Cited by 312 · see citing works
Jacobson, S. G., Alemán, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S., Windsor, E. A. M., Traboulsi, E. I., Héon, E., Pittler, S. J., Milam, A. H., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500646102 · Cited by 273 · see citing works
Self-citationBennicelli, J., Wright, J. F., Komaromy, A., Jacobs, J. B., Hauck, B., Zelenaia, O., Mingozzi, F., Hui, D., Chung, D., Rex, T. S., et al. (2008) · Molecular Therapy · doi:10.1038/sj.mt.6300389 · Cited by 267 · see citing works
Self-citationVision 1 Year after Gene Therapy for Leber's Congenital Amaurosis
Cideciyan, A. V., Hauswirth, W. W., Alemán, T. S., Kaushal, S., Schwartz, S., Boye, S. L., Windsor, E. A. M., Conlon, T. J., Sumaroka, A., Román, A. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmc0903652 · Cited by 199 · see citing works
In Utero Gene Therapy Rescues Vision in a Murine Model of Congenital Blindness
Dejneka, N. S., Surace, E. M., Alemán, T. S., Cideciyan, A. V., Lyubarsky, A., Savchenko, A., Redmond, T. M., Tang, W., Wei, Z., Rex, T. S., et al. (2004) · Molecular Therapy · doi:10.1016/j.ymthe.2003.11.013 · Cited by 197 · see citing works
Self-citationEarly-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Lorenz, B., Gyűrűs, P., Preising, M. N., Bremser, D., Gu, S., Andrassi-Darida, M., Gerth, C., & Gal, A. (2000) · PubMed · Cited by 196 · see citing works
Perrault, I., Rozet, J., Gerber, S., Ghazi, I., Leowski, C., Ducroq, D., Souied, E. H., Dufier, J., Münnich, A., & Kaplan, J. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2906 · Cited by 173 · see citing works
Latency of the Pupil Light Reflex: Sample Rate, Stimulus Intensity, and Variation in Normal Subjects
Bergamin, O., & Kardon, R. H. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0468 · Cited by 155 · see citing works
National Cancer Institute (2020) · Definitions · doi:10.32388/j5tlqb · Cited by 153 · see citing works
Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, E. M., Bianchi, P. E., Fossarello, M., Signorini, S. G., Bertone, C., Galantuomo, M. S., et al. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0068 · Cited by 144 · see citing works
Self-citationAlemán, T. S., Jacobson, S. G., Chico, J. D., Scott, M. L., Cheung, A. Y., Windsor, E. A. M., Furushima, M., Redmond, T. M., Bennett, J., Palczewski, K., et al. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-1230 · Cited by 101 · see citing works
Self-citationSeiple, W., Clemens, C. J., Greenstein, V. C., Carr, R. E., & Holopigian, K. (2004) · Documenta Ophthalmologica · doi:10.1007/s10633-005-0567-0 · Cited by 52 · see citing works
Jacobs, J. B., Dell’Osso, L. F., Hertle, R. W., Acland, G. M., & Bennett, J. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1233 · Cited by 36 · see citing works
Self-citationJacobs, J. B., Dell’Osso, L., Hertle, R. W., et al. (2006) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2006.10.006 · Cited by 7 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [26]Lorenz B Gyurus P Preising M Bremser DG Early-onset severe rod-cone dystrophy in young children with RPE65 mutations Invest Ophthalmol Vis Sci 2003 44 1546 1554 10937591
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Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31868-8 · Cited by 1,952 · see citing works
Self-citationDunbar, C. E., High, K. A., Joung, J. K., Kohn, D. B., Ozawa, K., & Sadelain, M. (2018) · Science · doi:10.1126/science.aan4672 · Cited by 1,410 · see citing works
Self-citationImmune responses to AAV vectors: overcoming barriers to successful gene therapy
Mingozzi, F., & High, K. A. (2013) · Blood · doi:10.1182/blood-2013-01-306647 · Cited by 955 · see citing works
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 · see citing works
Gene therapy clinical trials worldwide to 2017: An update
Ginn, S. L., Amaya, A. K., Alexander, I. E., Edelstein, M., & Abedi, M. R. (2018) · The Journal of Gene Medicine · doi:10.1002/jgm.3015 · Cited by 903 · see citing works
Therapeutic in vivo gene transfer for genetic disease using AAV: Progress and challenges
Mingozzi, F., & High, K. A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2988 · Cited by 893 · see citing works
Self-citationMacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62117-0 · Cited by 796 · see citing works
Dalkara, D., Byrne, L. C., Klimczak, R. R., Visel, M., Yin, L., Merigan, W. H., Flannery, J. G., & Schaffer, D. V. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3005708 · Cited by 734 · see citing works
Long-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 · see citing works
Dystrophin Immunity in Duchenne's Muscular Dystrophy
Mendell, J. R., Campbell, K., Rodino-Klapac, L., Sahenk, Z., Shilling, C., Lewis, S., Bowles, D., Gray, S., Li, C., Galloway, G., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1000228 · Cited by 655 · see citing works
AAV Vector Immunogenicity in Humans: A Long Journey to Successful Gene Transfer
Costa Verdera, H., Kuranda, K., & Mingozzi, F. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2019.12.010 · Cited by 641 · see citing works
Self-citationJacobson, S. G. (2012) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2011.298 · Cited by 639 · see citing works
Wirth, T., Parker, N., & Ylä-Herttuala, S. (2013) · Gene · doi:10.1016/j.gene.2013.03.137 · Cited by 607 · see citing works
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., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)30371-3 · Cited by 461 · see citing works
Self-citationMaguire, A. M., Russell, S., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., Marshall, K. A., et al. (2019) · Ophthalmology · doi:10.1016/j.ophtha.2019.06.017 · Cited by 409 · see citing works
Self-citationSubretinal visual implant alpha IMS - clinical trial interim report
Stingl, K., Bartz-Schmidt, K. U., Besch, D., Chee, C. K., Cottriall, C. L., Gekeler, F., Groppe, M., Jackson, T. L., MacLaren, R. E., Koitschev, A., et al. (2015) · Vision Research · doi:10.1016/j.visres.2015.03.001 · Cited by 387 · see citing works
AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness
Bennett, J., Ashtari, M., Wellman, J., Marshall, K. A., Cyckowski, L. L., Chung, D. C., McCague, S., Pierce, E. A., Chen, Y., Bennicelli, J. L., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3002865 · Cited by 395 · see citing works
Self-citationManufacturing of recombinant adeno-associated viral vectors for clinical trials
Clément, N., & Grieger, J. C. (2016) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2016.2 · Cited by 286 · see citing works
AAV <i>cis</i> -regulatory sequences are correlated with ocular toxicity
Xiong, W., Wu, D. M., Xue, Y., Wang, S. K., Chung, M. J., Ji, X., Rana, P., Zhao, S. R., Mai, S., & Cepko, C. L. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1821000116 · Cited by 249 · see citing works
Effective delivery of large genes to the retina by dual AAV vectors
Trapani, I., Colella, P., Sommella, A., Iodice, C., Cesi, G., de Simone, S., Marrocco, E., Rossi, S., Giunti, M., Palfi, A., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201302948 · Cited by 269 · see citing works
Self-citationA comprehensive review of retinal gene therapy
Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262 · see citing works
Intracellular transport of recombinant adeno-associated virus vectors
Nonnenmacher, M., & Weber, T. (2012) · Gene Therapy · doi:10.1038/gt.2012.6 · Cited by 258 · see citing works
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
Cideciyan, A. V. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.04.002 · Cited by 256 · see citing works
Bucher, K., Rodríguez-Bocanegra, E., Dauletbekov, D., & Fischer, M. D. (2021) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100915 · Cited by 242 · see citing works
Ghazi, N. G., Abboud, E. B., Nowilaty, S. R., Alkuraya, H., Alhommadi, A., Cai, H., Hou, R., Deng, W.-T., Boye, S. L., Almaghamsi, A., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1637-y · Cited by 243 · see citing works
Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey
Vandenberghe, L. H., Bell, P., Maguire, A. M., Cearley, C. N., Xiao, R., Calcedo, R., Wang, L., Castle, M. J., Maguire, A. C., Grant, R., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002103 · Cited by 242 · see citing works
Self-citationUnraveling the complex story of immune responses to AAV vectors trial after trial.
Vandamme, C., Adjali, O., & Mingozzi, F. (2017) · Human Gene Therapy · doi:10.1089/hum.2017.150 · Cited by 234 · see citing works
Self-citationGene Therapy for Leber Hereditary Optic Neuropathy
Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L., & Guy, J. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.10.025 · Cited by 230 · see citing works
Emerging therapies for inherited retinal degeneration
Scholl, H. P. N., Strauss, R. W., Singh, M. S., Dalkara, D., Roska, B., Picaud, S., & Sahel, J.-A. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf2838 · Cited by 219 · see citing works
Weleber, R. G., Pennesi, M. E., Wilson, D. J., Kaushal, S., Erker, L. R., Jensen, L., McBride, M. T., Flotte, T. R., Humphries, M., Calcedo, R., et al. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2016.03.003 · Cited by 218 · see citing works
Intravitreal injection of AAV2 transduces macaque inner retina
Yin, L., Greenberg, K., Hunter, J. J., Dalkara, D., Kolstad, K. D., Masella, B. D., Wolfe, R., Visel, M., Stone, D., Libby, R. T., et al. (2011) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.10-6250 · Cited by 212 · see citing works
Wright, J. (2014) · Biomedicines · doi:10.3390/biomedicines2010080 · Cited by 219 · see citing works
Self-citationGene Therapy for Leber Hereditary Optic Neuropathy
Guy, J., Feuer, W. J., Davis, J. L., Porciatti, V., Gonzalez, P. J., Koilkonda, R. D., Yuan, H., Hauswirth, W. W., & Lam, B. L. (2017) · Ophthalmology · doi:10.1016/j.ophtha.2017.05.016 · Cited by 204 · see citing works
Technique of retinal gene therapy: delivery of viral vector into the subretinal space
Xue, K., Groppe, M., Salvetti, A. P., & MacLaren, R. E. (2017) · Eye · doi:10.1038/eye.2017.158 · Cited by 191 · see citing works
Innate Immune Responses to AAV Vectors
Rogers, G. L., Martino, A. T., Aslanidi, G. V., Jayandharan, G. R., Srivastava, A., & Herzog, R. W. (2011) · Frontiers in Microbiology · doi:10.3389/fmicb.2011.00194 · Cited by 178 · see citing works
Subretinal injection: a review on the novel route of therapeutic delivery for vitreoretinal diseases
Peng, Y., Tang, L., & Zhou, Y. (2017) · Ophthalmic Research · doi:10.1159/000479157 · Cited by 175 · see citing works
Kotterman, M. A., Yin, L., Strazzeri, J. M., Flannery, J. G., Merigan, W. H., & Schaffer, D. V. (2015) · Gene Therapy · doi:10.1038/gt.2014.115 · Cited by 169 · see citing works
Lock, M., Alvira, M. R., Chen, S.-J., & Wilson, J. M. (2014) · Human Gene Therapy Methods · doi:10.1089/hgtb.2013.131 · Cited by 163 · see citing works
Wassmer, S. J., Carvalho, L. S., György, B., Vandenberghe, L. H., & Maguire, C. A. (2017) · Scientific Reports · doi:10.1038/srep45329 · Cited by 164 · see citing works
Qiao, C., Yuan, Z., Li, J., He, B., Zheng, H., Mayer, C., Li, J., & Xiao, X. (2011) · Gene Therapy · doi:10.1038/gt.2010.157 · Cited by 163 · see citing works
Burnham, B., Nass, S., Kong, E., Mattingly, M., Woodcock, D., Song, A., Wadsworth, S., Cheng, S. H., Scaria, A., & O'Riordan, C. R. (2015) · Human Gene Therapy Methods · doi:10.1089/hgtb.2015.048 · Cited by 150 · see citing works
György, B., Fitzpatrick, Z., Crommentuijn, M. H. W., Mu, D., & Maguire, C. A. (2014) · Biomaterials · doi:10.1016/j.biomaterials.2014.05.032 · Cited by 153 · see citing works
Exosome-associated AAV vector as a robust and convenient neuroscience tool
Hudry, E., Martin, C., Gandhi, S., György, B., Scheffer, D. I., Mu, D., Merkel, S. F., Mingozzi, F., Fitzpatrick, Z., Dimant, H., et al. (2016) · Gene Therapy · doi:10.1038/gt.2016.11 · Cited by 146 · see citing works
Self-citationYiu, G., Chung, S. H., Mollhoff, I. N., Nguyen, U. T., Thomasy, S. M., Yoo, J., Taraborelli, D., & Noronha, G. (2020) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2020.01.002 · Cited by 153 · see citing works
Universal Method for the Purification of Recombinant AAV Vectors of Differing Serotypes
Nass, S. A., Mattingly, M. A., Woodcock, D. A., Burnham, B. L., Ardinger, J. A., Osmond, S. E., Frederick, A. M., Scaria, A., Cheng, S. H., & O’Riordan, C. R. (2018) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2017.12.004 · Cited by 146 · see citing works
Chien, Y.-H., Lee, N.-C., Tseng, S.-H., Tai, C.-H., Muramatsu, S.-I., Byrne, B. J., & Hwu, W.-L. (2017) · The Lancet Child & Adolescent Health · doi:10.1016/s2352-4642(17)30125-6 · Cited by 142 · see citing works
Amado, D., Mingozzi, F., Hui, D., Bennicelli, J. L., Wei, Z., Chen, Y., Bote, E., Grant, R. L., Golden, J. A., Narfstrom, K., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3000659 · Cited by 140 · see citing works
Self-citationMingozzi, F., Chen, Y., Edmonson, S. C., Zhou, S., Thurlings, R. M., Tak, P. P., High, K. A., & Vervoordeldonk, M. J. (2013) · Gene Therapy · doi:10.1038/gt.2012.55 · Cited by 138 · see citing works
Self-citationSafety and long-term efficacy of AAV4 gene therapy in patients with RPE65 leber congenital amaurosis
Le Meur, G., Lebranchu, P., Billaud, F., Adjali, O., Schmitt, S., Bézieau, S., Péréon, Y., Valabregue, R., Ivan, C., Darmon, C., et al. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2017.09.014 · Cited by 137 · see citing works
Novel adeno-associated viral vectors for retinal gene therapy.
Vandenberghe, L. H., & Auricchio, A. (2012) · Gene Therapy · doi:10.1038/gt.2011.151 · Cited by 131 · see citing works
Self-citationDyka, F. M., Boye, S. L., Chiodo, V. A., Hauswirth, W. W., & Boye, S. E. (2014) · Human Gene Therapy Methods · doi:10.1089/hgtb.2013.212 · Cited by 128 · see citing works
New insights into retinoid metabolism and cycling within the retina
Tang, P. H., Kono, M., Koutalos, Y., Ablonczy, Z., & Crouch, R. K. (2013) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2012.09.002 · Cited by 122 · see citing works
Immune responses to AAV-vectors, the Glybera example from bench to bedside
Ferreira, V., Petry, H., & Salmon, F. (2014) · Frontiers in Immunology · doi:10.3389/fimmu.2014.00082 · Cited by 120 · see citing works
Asuri, P., Bartel, M. A., Vazin, T., Jang, J.-H., Wong, T. B., & Schaffer, D. V. (2012) · Molecular Therapy · doi:10.1038/mt.2011.255 · Cited by 119 · see citing works
Enhancing the Clinical Potential of AAV Vectors by Capsid Engineering to Evade Pre-Existing Immunity
Bartel, M. (2011) · Frontiers in Microbiology · doi:10.3389/fmicb.2011.00204 · Cited by 108 · see citing works
Immunology of AAV-Mediated Gene Transfer in the Eye
Willett, K., & Bennett, J. (2013) · Frontiers in Immunology · doi:10.3389/fimmu.2013.00261 · Cited by 105 · see citing works
Self-citationTakahashi, K., Igarashi, T., Miyake, K., Kobayashi, M., Yaguchi, C., Iijima, O., Yamazaki, Y., Katakai, Y., Miyake, N., Kameya, S., et al. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2016.10.008 · Cited by 99 · see citing works
Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors
Colella, P., Trapani, I., Cesi, G., Sommella, A., Manfredi, A., Puppo, A., Iodice, C., Rossi, S., Simonelli, F., Giunti, M., et al. (2014) · Gene Therapy · doi:10.1038/gt.2014.8 · Cited by 103 · see citing works
Self-citationSubretinal injection techniques for retinal disease: A review
Irigoyen, C., Amenabar Alonso, A., Sanchez-Molina, J., Rodríguez-Hidalgo, M., Lara-López, A., & Ruiz-Ederra, J. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11164717 · Cited by 106 · see citing works
Lock, M., Alvira, M. R., & Wilson, J. M. (2012) · Human Gene Therapy Methods · doi:10.1089/hgtb.2011.217 · Cited by 99 · see citing works
Trapani, I., Toriello, E., de Simone, S., Colella, P., Iodice, C., Polishchuk, E. V., Sommella, A., Colecchi, L., Rossi, S., Simonelli, F., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv386 · Cited by 94 · see citing works
Self-citationLi, C., Diprimio, N., Bowles, D. E., Hirsch, M. L., Monahan, P. E., Asokan, A., Rabinowitz, J., Agbandje-McKenna, M., & Samulski, R. J. (2012) · Journal of Virology · doi:10.1128/jvi.00675-12 · Cited by 96 · see citing works
Ertl, H. C. J., & High, K. A. (2017) · Human Gene Therapy · doi:10.1089/hum.2016.172 · Cited by 94 · see citing works
Self-citationT Cell-Mediated Immune Responses to AAV and AAV Vectors
Ertl, H. C. J. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.666666 · Cited by 88 · see citing works
D'Costa, S., Blouin, V., Broucque, F., Penaud-Budloo, M., Fçranois, A., Perez, I. C., Le Bec, C., Moullier, P., Snyder, R. O., & Ayuso, E. (2016) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2016.19 · Cited by 89 · see citing works
Bush, R. A., Zeng, Y., Colosi, P., Kjellstrom, S., Hiriyanna, S., Vijayasarathy, C., Santos, M., Li, J., Wu, Z., & Sieving, P. A. (2016) · Human Gene Therapy · doi:10.1089/hum.2015.142 · Cited by 86 · see citing works
Gene therapy for ocular diseases
Liu, M. M., Tuo, J., & Chan, C.-C. (2011) · British Journal of Ophthalmology · doi:10.1136/bjo.2009.174912 · Cited by 82 · see citing works
Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain
Keiser, M. S., Ranum, P. T., Yrigollen, C. M., Carrell, E. M., Smith, G. R., Muehlmatt, A. L., Chen, Y. H., Stein, J. M., Wolf, R. L., Radaelli, E., et al. (2021) · Nature Medicine · doi:10.1038/s41591-021-01522-3 · Cited by 79 · see citing works
Long-term Structural Outcomes of Late-stage RPE65 Gene Therapy
Gardiner, K. L., Cideciyan, A. V., Swider, M., Dufour, V. L., Sumaroka, A., Komáromy, A. M., Hauswirth, W. W., Iwabe, S., Jacobson, S. G., Beltran, W. A., et al. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2019.08.013 · Cited by 67 · see citing works
Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy
Gong, Y., Mu, D., Prabhakar, S., Moser, A., Musolino, P., Ren, J., Breakefield, X. O., Maguire, C. A., & Eichler, F. S. (2015) · Molecular Therapy · doi:10.1038/mt.2015.6 · Cited by 74 · see citing works
Cereso, N., Pequignot, M. O., Robert, L., Becker, F., De Luca, V., Nabholz, N., Rigau, V., De Vos, J., Hamel, C. P., & Kalatzis, V. (2014) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2014.11 · Cited by 72 · see citing works
Adeno-associated Virus: A Key to the Human Genome?
Henckaerts, E., & Linden, R. M. (2010) · Future Virology · doi:10.2217/fvl.10.48 · Cited by 71 · see citing works
Rakoczy, E. P., Magno, A. L., Lai, C.-M., Pierce, C. M., Degli-Esposti, M. A., Blumenkranz, M. S., & Constable, I. J. (2019) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2019.03.006 · Cited by 70 · see citing works
Gene therapy for inherited retinal disease: Long-term durability of effect
Leroy, B. P., Fischer, M. D., Flannery, J. G., MacLaren, R. E., Dalkara, D., Scholl, H. P. N., Chung, D. C., Spera, C., Viriato, D., & Banhazi, J. (2023) · Ophthalmic Research · doi:10.1159/000526317 · Cited by 70 · see citing works
Self-citationWhittemore, K., Derevyanko, A., Martinez, P., Serrano, R., Pumarola, M., Bosch, F., & Blasco, M. A. (2019) · Aging · doi:10.18632/aging.101982 · Cited by 69 · see citing works
The Effect of CpG Sequences on Capsid-Specific CD8+ T Cell Responses to AAV Vector Gene Transfer
Xiang, Z., Kurupati, R. K., Li, Y., Kuranda, K., Zhou, X., Mingozzi, F., High, K. A., & Ertl, H. C. J. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2019.11.014 · Cited by 67 · see citing works
Self-citationmiRNAs as potential therapeutic targets for age-related macular degeneration
Wang, S., Koster, K. M., He, Y., & Zhou, Q. (2012) · Future Medicinal Chemistry · doi:10.4155/fmc.11.176 · Cited by 67 · see citing works
Wu, T., Töpfer, K., Lin, S.-W., Li, H., Bian, A., Zhou, X. Y., High, K. A., & Ertl, H. C. (2012) · Molecular Therapy · doi:10.1038/mt.2011.280 · Cited by 66 · see citing works
Self-citationCarvalho, L. S., Xiao, R., Wassmer, S. J., Langsdorf, A., Zinn, E., Pacouret, S., Shah, S., Comander, J. I., Kim, L. A., Lim, L., et al. (2018) · Human Gene Therapy · doi:10.1089/hum.2017.154 · Cited by 63 · see citing works
Cas9-directed immune tolerance in humans—a model to evaluate regulatory T cells in gene therapy?
Wagner, D. L., Peter, L., & Schmueck-Henneresse, M. (2021) · Gene Therapy · doi:10.1038/s41434-021-00232-2 · Cited by 63 · see citing works
MicroRNA-Restricted Transgene Expression in the Retina
Karali, M., Manfredi, A., Puppo, A., Marrocco, E., Gargiulo, A., Allocca, M., Corte, M. D., Rossi, S., Giunti, M., Bacci, M. L., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0022166 · Cited by 60 · see citing works
Self-citationAdeno-associated virus capsid antigen presentation is dependent on endosomal escape
Li, C., He, Y., Nicolson, S., Hirsch, M., Weinberg, M. S., Zhang, P., Kafri, T., & Samulski, R. J. (2013) · Journal of Clinical Investigation · doi:10.1172/jci66611 · Cited by 61 · see citing works
Ciulla, T. A., Hussain, R. M., Berrocal, A. M., & Nagiel, A. (2020) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2020.1740676 · Cited by 59 · see citing works
Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial
MacLaren, R. E., Fischer, M. D., Gow, J. A., Lam, B. L., Sankila, E.-M. K., Girach, A., Panda, S., Yoon, D., Zhao, G., & Pennesi, M. E. (2023) · Nature Medicine · doi:10.1038/s41591-023-02520-3 · Cited by 58 · see citing works
Mashal, M., Attia, N., Martínez-Navarrete, G., Soto-Sánchez, C., Fernández, E., Grijalvo, S., Eritja, R., Puras, G., & Pedraz, J. L. (2019) · Journal of Controlled Release · doi:10.1016/j.jconrel.2019.05.010 · Cited by 58 · see citing works
Humoral immune responses to <scp>AAV</scp> gene therapy in the ocular compartment
Whitehead, M., Osborne, A., Yu‐Wai‐Man, P., & Martin, K. (2021) · Biological Reviews · doi:10.1111/brv.12718 · Cited by 52 · see citing works
Host immune responses after suprachoroidal delivery of AAV8 in nonhuman primate eyes
Chung, S. H., Mollhoff, I. N., Mishra, A., Sin, T.-N., Ngo, T., Ciulla, T., Sieving, P., Thomasy, S. M., & Yiu, G. (2021) · Human Gene Therapy · doi:10.1089/hum.2020.281 · Cited by 57 · see citing works
Ye, G.-J., Budzynski, E., Sonnentag, P., Miller, P. E., Sharma, A. K., Ver Hoeve, J. N., Howard, K., Knop, D. R., Neuringer, M., McGill, T., et al. (2015) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2015.076 · Cited by 53 · see citing works
Muhuri, M., Zhan, W., Maeda, Y., Li, J., Lotun, A., Chen, J., Sylvia, K., Dasgupta, I., Arjomandnejad, M., Nixon, T., et al. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.674242 · Cited by 50 · see citing works
Nicolson, S. C., Li, C., Hirsch, M. L., Setola, V., & Samulski, R. J. (2016) · Journal of Virology · doi:10.1128/jvi.02953-15 · Cited by 48 · see citing works
Cwerman-Thibault, H., Augustin, S., Ellouze, S., Sahel, J.-A., & Corral-Debrinski, M. (2014) · Comptes Rendus. Biologies · doi:10.1016/j.crvi.2013.11.011 · Cited by 49 · see citing works
Li, C., Wu, S., Albright, B., Hirsch, M., Li, W., Tseng, Y.-S., Agbandje-McKenna, M., McPhee, S., Asokan, A., & Samulski, R. J. (2016) · Molecular Therapy · doi:10.1038/mt.2015.134 · Cited by 48 · see citing works
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 · see citing works
Duong, 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 · see citing works
Self-citationWu, T.-L., Li, H., Faust, S. M., Chi, E., Zhou, S., Wright, F., High, K. A., & Ertl, H. C. (2014) · Molecular Therapy · doi:10.1038/mt.2013.218 · Cited by 38 · see citing works
Self-citationBočkor, L., Bortolussi, G., Iaconcig, A., Chiaruttini, G., Tiribelli, C., Giacca, M., Benvenuti, F., Zentilin, L., & Muro, A. F. (2017) · Gene Therapy · doi:10.1038/gt.2017.75 · Cited by 32 · see citing works
Volumetric measurement of subretinal blebs using microscope-integrated optical coherence tomography
Hsu, S. T., Gabr, H., Viehland, C., Sleiman, K., Ngo, H. T., Carrasco-Zevallos, O. M., Vajzovic, L., McNabb, R. P., Stinnett, S. S., Izatt, J. A., et al. (2018) · Translational Vision Science & Technology · doi:10.1167/tvst.7.2.19 · Cited by 36 · see citing works
Hypoxia-regulated retinal glial cell-specific promoter for potential gene therapy in disease
Prentice, H. M., Biswal, M. R., Dorey, C. K., & Blanks, J. C. (2011) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.10-6835 · Cited by 35 · see citing works
Vector characterization methods for quality control testing of recombinant adeno-associated viruses
Wright, J. F., & Zelenaia, O. (2011) · Methods in Molecular Biology · doi:10.1007/978-1-61779-095-9_11 · Cited by 34 · see citing works
Self-citationCehajic-Kapetanovic, J., Milosavljevic, N., Bedford, R. A., Lucas, R. J., & Bishop, P. N. (2018) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2017.12.002 · Cited by 30 · see citing works
- Authors
- 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., Fulton, A., Marshall, K. A., Banfi, S., Chung, D. C., Morgan, J. I., Hauck, B., Zelenaia, O., Zhu, X., Raffini, L., Coppieters, F., De Baere, E., Shindler, K. S., Volpe, N. J., Surace, E. M., Acerra, C., Lyubarsky, A., Redmond, T. M., Stone, E., Sun, J., McDonnell, J. W., Leroy, B. P., Simonelli, F., & Bennett, J.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Boston Children's Hospital (US)
- National Institutes of Health (US)
- University of Iowa (US)
- ORCID
- Maguire, Albert M
- High, Katherine A
- Auricchio, Alberto
- Wright, J Fraser
- Pierce, Eric A
- Testa, Francesco
- Mingozzi, Federico
- Ying, Gui-shuang
- Rossi, Settimio
- Banfi, Sandro
- Chung, Daniel C
- Morgan, Jessica IW
- Zhu, Xiaosong
- Raffini, Leslie
- Coppieters, Frauke
- Shindler, Kenneth S
- Volpe, Nicholas J
- Surace, Enrico M
- Redmond, T Michael
- Stone, Edwin
- Sun, Junwei
- Leroy, Bart P
- Simonelli, Francesca
- Bennett, Jean
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2009-11
- Volume
- 374
- Issue
- 9701
- Pages
- 1597-1605
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- PMC
- PMC4492302
- OpenAlex
- W2162290849
- Cited by
- 865
- References
- 30
- Citations by year
- 2026: 14 · 2025: 24 · 2024: 38 · 2023: 33 · 2022: 34 · 2021: 46 · 2020: 50 · 2019: 31 · 2018: 47 · 2017: 64 · 2016: 49 · 2015: 77 · 2014: 71 · 2013: 58 · 2012: 76
- FWCI
- 30.30
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Eye Institute (U10EY013729, R01EY010820)
- National Center for Research Resources (UL1RR024134)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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
- Leber congenital amaurosis, adeno-associated virus, subretinal injection, inherited retinal degeneration, visual function, pupillometry, electroretinogram, nystagmus, children, dose escalation, retinal pigment epithelium
- MeSH terms
- Retinoid Isomerohydrolase, Dependovirus, Adolescent, Adult, Age Factors, Blindness, Carrier Proteins, Child, Dark Adaptation, Dose-Response Relationship, Drug, Electroretinography, Eye Proteins, Female, Genetic Vectors, Humans, Injections, Male, Mutation, Nystagmus, Physiologic, Safety, Visual Acuity, Genetic Therapy, Treatment Outcome, Disease Progression, cis-trans-Isomerases, Optic Atrophy, Hereditary, Leber, Young Adult
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