ArticleMolecular therapy : the journal of the American Society of Gene Therapy2014
Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 67 citations in OpenAlex.
- Unilateral subretinal administration of HORA-PDE6β in patients with retinitis pigmentosa harbouring mutations in theBMJ open ophthalmology · 2026Article
- Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids.Stem cell reports · 2025Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- The Structural Abnormalities Are Deeply Involved in the Cause ofInternational journal of molecular sciences · 2023Article
- Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.Human molecular genetics · 2023Article
- Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets.Frontiers in molecular biosciences · 2023Review
- Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.Open life sciences · 2023Article
- Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities.Asian journal of pharmaceutical sciences · 2022Review
- Article
- Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by PathogenicJournal of ophthalmology · 2021Article
- Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.Frontiers in cell and developmental biology · 2021Article
- A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.BMC genetics · 2020Article
- Novel mutation identified in Leber congenital amaurosis - a case report.BMC ophthalmology · 2020Article
- Review
- Therapeutic perspectives for structural and functional abnormalities of cilia.Cellular and molecular life sciences : CMLS · 2019Review
- Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy EstablishesGenes · 2019Article
- Synthetic Adeno-Associated Viral Vector Efficiently Targets Mouse and Nonhuman Primate Retina In Vivo.Human gene therapy · 2018Article
- Concepts and Strategies in Retinal Gene Therapy.Investigative ophthalmology & visual science · 2017Article
- Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.The British journal of ophthalmology · 2017Review
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For the development of new therapies, proof-of-concept studies in large animal models that share clinical features with their human counterparts represent a pivotal step. For inherited retinal dystrophies primarily involving photoreceptor cells, the efficacy of gene therapy has been demonstrated in canine models of stationary cone dystrophies and progressive rod-cone dystrophies but not in large models of progressive cone-rod dystrophies, another important cause of blindness. To address the last issue, we evaluated gene therapy in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1)-deficient dog, a model exhibiting a severe cone-rod dystrophy similar to that seen in humans. Subretinal injection of AAV5 (n = 5) or AAV8 (n = 2) encoding the canine Rpgrip1 improved photoreceptor survival in transduced areas of treated retinas. Cone function was significantly and stably rescued in all treated eyes (18-72% of those recorded in normal eyes) up to 24 months postinjection. Rod function was also preserved (22-29% of baseline function) in four of the five treated dogs up to 24 months postinjection. No detectable rod function remained in untreated contralateral eyes. More importantly, treatment preserved bright- and dim-light vision. Efficacy of gene therapy in this large animal model of cone-rod dystrophy provides great promise for human treatment.
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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.