Effect of gene therapy on visual function in Leber's congenital amaurosis.

By J. Bainbridge, Alexander J. Smith, Susie S Barker, S. Robbie, R. Henderson, K. Balaggan, A. Viswanathan, G. Holder, A. Stockman, N. Tyler and 8 more. New England Journal of Medicine, 2008

1,975 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/2e808f126d933665e89ddf814c00d175057aaee1

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Citations in the corpus

• Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics (2008, background): “(15) used dark-adapted thresholds and found as much as 2 log units of increased vision in one patient, but again the photoreceptor type mediating the improvement remained unclear (15).”
• Gene therapy comes of age (2018, unknown): “In the only randomized controlled phase 3 gene therapy trial completed to date, visually impaired patients who carried RPE65 mutations were randomized to undergo sequential bilateral injection of AAV2-RPE65 or to undergo the same series of evaluations without the intervention (99).”
• Effect of genome size on AAV vector packaging. (2010, unknown): “(1) Packaging, (2) uncoating, (3) second-strand DNA synthesis, (4) annealing, and (5) homologous recombination.”
• Current Clinical Applications of In Vivo Gene Therapy with AAVs (2020, background): “gov: NCT00643747), ocular inflammation was noted following SRI of 1 10(12) vg of AAV2-RPE65.(71,99) There was no inflammation noted in the University of Pennsylvania/University of Florida trial (ClinicalTrials.”
• Retinitis Pigmentosa: Genes and Disease Mechanisms (2011, background): “Results in pre-clinical studies have recently led to three encouraging gene therapy clinical trials in which patients affected by LCA were sub-retinal injected with recombinant adeno-associated viral vectors (rAAV) containing the human RPE65 cDNA [24-26].”
• Gene therapy clinical trials worldwide to 2012 – an update (2013, background): “Using sub-retinal administration of recombinant adeno-associated viral vectors (rAAV) expressing RPE65, three independent clinical trials for LCA have been initiated [32–35].”
• Gene Therapy for Leber Congenital Amaurosis caused by RPE65 mutations: Safety and Efficacy in Fifteen Children and Adults Followed up to Three Years (2011, background): “Other RPE65-related LCA clinical trial reports have displayed but not measured OCT scans in patients with foveal inclusion in the detachment.(15,16,21) We conclude that there is a risk to foveal cone cells in retinal detachments that include the fovea.”