SynthesisOrphanet journal of rare diseases2020
The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.
Synthesis in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Pooled it
- Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.Translational vision science & technology · 2023Pooled it
- Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Trial
- Combination gene therapy with AAV based RPE65 and survivin vectors sustains phenotypic rescue in neural retina of LCA2 mice.Molecular and cellular biochemistry · 2026Article
- Gene Therapy Using Recombinant Adeno-Associated Virus for Leber Congenital Amaurosis Induced by RPE65 Mutation.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Brain-Computer Interfaces for Vision Recovery in Precortical Vision Loss.Eye and brain · 2026Review
- Improvements induced by retinal gene therapy with voretigene neparvovec depend on visual cortical hemispheric dominance mechanisms.Communications medicine · 2025Article
- Review
- dCasMINI-mediated therapy rescues photoreceptors degeneration in a mouse model of retinitis pigmentosa.Science advances · 2024Article
- Recombinant adeno-associated virus as a delivery platform for ocular gene therapy: A comprehensive review.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Comparative in vivo characterization of newly discovered myotropic adeno-associated vectors.Skeletal muscle · 2024Article
- Functional Vision in Patients With Biallelic USH2A Variants.American journal of ophthalmology · 2024Article
- Full-field stimulus threshold testing: a scoping review of current practice.Eye (London, England) · 2024Article
- Genetic Landscape ofFrontiers in genetics · 2024Article
- Cell-cell interaction in the pathogenesis of inherited retinal diseases.Frontiers in cell and developmental biology · 2024Review
- Leukemia Inhibitory Factor Protects against Degeneration of Cone Photoreceptors Caused by RPE65 Deficiency.Current medicinal chemistry · 2024Article
- Late gene therapy limits the restoration of retinal function in a mouse model of retinitis pigmentosa.Nature communications · 2023Article
- Article
- GMP-grade human neural progenitors delivered subretinally protect vision in rat model of retinal degeneration and survive in minipigs.Journal of translational medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundRPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment. This study aims to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-LCA.
methodsSeveral databases (PubMed, Cochrane Library, and Web of Science) were searched for results of studies describing efficacy of gene therapy in patients with RPE65-LCA. Six studies, which included one randomized and five prospective non-randomized clinical trials, 164 eyes met our search criteria and were assessed.
resultsThe BCVA significantly improved in treated eyes at 1 yr post treatment by - 0.10 logMAR (95% CI, - 0.17 - -0.04; p = 0·002), while there was no significant difference at 2-3 years post treatment (WMD: 0.01; 95% CI, - 0.00 - 0.02; p = 0·15). FST sensitivity to blue flashes also improved by 1.60 log (95% CI, 0.66-2.55; p = 0.0009), but no significant difference to red flashes (WMD: 0.86; 95% CI, - 0·29-2.01; p = 0.14) at 1 yr. There was no significant difference in central retinal thickness at 1 yr, but central retina in treated eyes appeared thinner at 2-3 years post treatment by 19.21 μm (95% CI, - 34.22 - -4.20; p = 0.01).
conclusionsHuman gene therapy is a pioneering treatment option for RPE65-LCA. Although its efficacy appears to be limited to less than 2 yrs after treatment, it carries the potential for further improvement and prolongation of efficacy.
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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.