ArticleJournal of molecular medicine (Berlin, Germany)2013
Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.
Article in Journal of molecular medicine (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 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
50 citing papers in PubMed, 88 citations in OpenAlex.
- Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.Nature medicine · 2023Trial
- Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.Lancet (London, England) · 2014Trial
- Efficacy and safety of AAV-mediated gene therapy for choroideremia: a systematic review and meta-analysis.EClinicalMedicine · 2026Article
- Culture of Human Retinal Explants as an Ex Vivo Model for Retinal Gene Therapy.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Article
- The Role of Rab GTPases in the development of genetic and malignant diseases.Molecular and cellular biochemistry · 2024Review
- Updates on protein-prenylation and associated inherited retinopathies.Frontiers in ophthalmology · 2024Review
- Choroideremia: The Endpoint Endgame.International journal of molecular sciences · 2023Review
- Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia.Translational vision science & technology · 2023Article
- Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.Cold Spring Harbor perspectives in medicine · 2023Article
- AAV for Gene Therapy in Ocular Diseases: Progress and Prospects.Research (Washington, D.C.) · 2023Review
- New frontiers of retinal therapeutic intervention: a critical analysis of novel approaches.Annals of medicine · 2022Review
- The Learning Curve of Murine Subretinal Injection Among Clinically Trained Ophthalmic Surgeons.Translational vision science & technology · 2022Article
- Article
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
- Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina.Molecular therapy. Methods & clinical development · 2021Article
- Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies.Medicina (Kaunas, Lithuania) · 2021Review
- Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?Expert opinion on orphan drugs · 2021Article
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.JAMA ophthalmology · 2020Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Choroideremia (CHM) is an X-linked retinal degeneration of photoreceptors, the retinal pigment epithelium (RPE) and choroid caused by loss of function mutations in the CHM/REP1 gene that encodes Rab escort protein 1. As a slowly progressing monogenic retinal degeneration with a clearly identifiable phenotype and a reliable diagnosis, CHM is an ideal candidate for gene therapy. We developed a serotype 2 adeno-associated viral vector AAV2/2-CBA-REP1, which expresses REP1 under control of CMV-enhanced chicken β-actin promoter (CBA) augmented by a Woodchuck hepatitis virus post-transcriptional regulatory element. We show that the AAV2/2-CBA-REP1 vector provides strong and functional transgene expression in the D17 dog osteosarcoma cell line, CHM patient fibroblasts and CHM mouse RPE cells in vitro and in vivo. The ability to transduce human photoreceptors highly effectively with this expression cassette was confirmed in AAV2/2-CBA-GFP transduced human retinal explants ex vivo. Electroretinogram (ERG) analysis of AAV2/2-CBA-REP1 and AAV2/2-CBA-GFP-injected wild-type mouse eyes did not show toxic effects resulting from REP1 overexpression. Subretinal injections of AAV2/2-CBA-REP1 into CHM mouse retinas led to a significant increase in a- and b-wave of ERG responses in comparison to sham-injected eyes confirming that AAV2/2-CBA-REP1 is a promising vector suitable for choroideremia gene therapy in human clinical trials.
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.