ArticleGene therapy2013
RPE65 gene therapy slows cone loss in Rpe65-deficient dogs.
Article in Gene therapy, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 62 citations in OpenAlex.
- Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy.Human gene therapy · 2018Trial
- Long-term effect of gene therapy on Leber's congenital amaurosis.The New England journal of medicine · 2015Trial
- Gene therapy induces synaptic ribbon maturation, synaptogenesis and vision recovery in an adult dog model of retinal degeneration.Molecular therapy. Advances · 2026Article
- Functional and Structural Characterization of a Large Animal Model of RDH5-Associated Retinopathy.Translational vision science & technology · 2026Article
- Canine models of inherited retinal diseases: from neglect to well-recognized translational value.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Improvements induced by retinal gene therapy with voretigene neparvovec depend on visual cortical hemispheric dominance mechanisms.Communications medicine · 2025Article
- Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Leukemia Inhibitory Factor Protects against Degeneration of Cone Photoreceptors Caused by RPE65 Deficiency.Current medicinal chemistry · 2024Article
- Translatability barriers between preclinical and clinical trials of AAV gene therapy in inherited retinal diseases.Vision research · 2023Review
- Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Serotype-specific transduction of canine joint tissue explants and cultured monolayers by self-complementary adeno-associated viral vectors.Gene therapy · 2023Article
- Dual-AAV split prime editor corrects the mutation and phenotype in mice with inherited retinal degeneration.Signal transduction and targeted therapy · 2023Article
- Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT).Experimental eye research · 2022Article
- In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration.Nature communications · 2022Article
- Elevated retinal cGMP is not associated with elevated circulating cGMP levels in a canine model of retinitis pigmentosa.PloS one · 2022Article
- Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
- Article
- Gene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders.Open life sciences · 2021Review
- Adaptations for amphibious vision in sea otters (Enhydra lutris): structural and functional observations.Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology · 2020Article
- Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Recent clinical trials of retinal pigment epithelium gene (RPE65) supplementation therapy in Leber congenital amaurosis type 2 patients have demonstrated improvements in rod and cone function, but it may be some years before the effects of therapy on photoreceptor survival become apparent. The Rpe65-deficient dog is a very useful pre-clinical model in which to test efficacy of therapies, because the dog has a retina with a high degree of similarity to that of humans. In this study, we evaluated the effect of RPE65 gene therapy on photoreceptor survival in order to predict the potential benefit and limitations of therapy in patients. We examined the retinas of Rpe65-deficient dogs after RPE65 gene therapy to evaluate the preservation of rods and cone photoreceptor subtypes. We found that gene therapy preserves both rods and cones. While the moderate loss of rods in the Rpe65-deficient dog retina is slowed by gene therapy, S-cones are lost extensively and gene therapy can prevent that loss, although only within the treated area. Although LM-cones are not lost extensively, cone opsin mislocalization indicates that they are stressed, and this can be partially reversed by gene therapy. Our results suggest that gene therapy may be able to slow cone degeneration in patients if intervention is sufficiently early and also that it is probably important to treat the macula in order to preserve central function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.