ArticleMolecular therapy : the journal of the American Society of Gene Therapy2018
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
16 citing papers in PubMed, 26 citations in OpenAlex.
- Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Trial
- Targeted LNP-mediated delivery of VE-cadherin mRNA reduces vascular hyperpermeability in vivo.Blood advances · 2026Article
- Loss of monocyte chemoattractant protein-1 reduced monocyte recruitment and preserved retinal ganglion cells in a mouse model of hypertensive glaucoma.Experimental eye research · 2025Article
- Human retina-in-a-dish: Unlocking the potential to study mechanisms of inherited retinal disease.Molecular therapy. Methods & clinical development · 2023Article
- CRISPR-Cas9 correction of a nonsense mutation inMolecular therapy. Methods & clinical development · 2023Article
- Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme.JCI insight · 2023Article
- Lessons Learned from the Development of the First FDA-Approved Gene Therapy Drug, Voretigene Neparvovec-rzyl.Cold Spring Harbor perspectives in medicine · 2023Review
- Topical and systemic GLP-1R agonist administration both rescue retinal ganglion cells in hypertensive glaucoma.Frontiers in cellular neuroscience · 2023Article
- Restoration of Vision and Retinal Responses After Adeno-Associated Virus-Mediated Optogenetic Therapy in Blind Dogs.Translational vision science & technology · 2022Article
- AAV-mediatedMolecular therapy. Methods & clinical development · 2021Article
- Inflammation in Viral Vector-Mediated Ocular Gene Therapy: A Review and Report From a Workshop Hosted by the Foundation Fighting Blindness, 9/2020.Translational vision science & technology · 2021Article
- Limited time window for retinal gene therapy in a preclinical model of ciliopathy.Human molecular genetics · 2020Article
- Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.Investigative ophthalmology & visual science · 2020Article
- Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease.Genes · 2019Review
- Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.Frontiers in genetics · 2019Review
- Comparative AAV-eGFP Transgene Expression Using Vector Serotypes 1-9, 7m8, and 8b in Human Pluripotent Stem Cells, RPEs, and Human and Rat Cortical Neurons.Stem cells international · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 5 institutions in 3 countries.
Funding
Abstract
Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in order to test the efficacy of gene augmentation therapy for a ciliopathy. The LCA5-encoded protein, Lebercilin, is essential for the trafficking of proteins and vesicles to the photoreceptor outer segment. Using the AAV serotype AAV7m8 to deliver a human LCA5 cDNA into an Lca5 null mouse model of LCA5, we show partial rescue of retinal structure and visual function. Specifically, we observed restoration of rod-and-cone-driven electroretinograms in about 25% of injected eyes, restoration of pupillary light responses in the majority of treated eyes, an ∼20-fold decrease in target luminance necessary for visually guided behavior, and improved retinal architecture following gene transfer. Using LCA5 patient-derived iPSC-RPEs, we show that delivery of the LCA5 cDNA restores lebercilin protein and rescues cilia quantity. The results presented in this study support a path forward aiming to develop safety and efficacy trials for gene augmentation therapy in human subjects with LCA5 mutations. They also provide the framework for measuring the effects of intervention in ciliopathies and other severe, early-onset blinding conditions.
Indexed as
Identifiers
What OpenQuestion holds
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.