ArticleExpert opinion on orphan drugs2015
Pathogenic mechanisms and the prospect of gene therapy for choroideremia.
Article in Expert opinion on orphan drugs, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.BMC ophthalmology · 2022Pooled it
- Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.Nature medicine · 2023Trial
- Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Genetic Analysis of Choroideremia-Related Rab Escort Proteins.International journal of molecular sciences · 2025Article
- Updates on protein-prenylation and associated inherited retinopathies.Frontiers in ophthalmology · 2024Review
- Article
- Ocular Gene Therapy: A Literature Review with Special Focus on Immune and Inflammatory Responses.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
- The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.International journal of molecular sciences · 2021Review
- Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia.Translational vision science & technology · 2020Article
- Genome Editing in Patient iPSCs Corrects the Most PrevalentMolecular therapy. Methods & clinical development · 2020Article
- Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.Bioscience reports · 2020Article
- CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.Retina (Philadelphia, Pa.) · 2019Review
- Clinical applications of retinal gene therapies.Precision clinical medicine · 2018Review
- Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy.Neural plasticity · 2018Review
- Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.Ophthalmology · 2017Article
- Gene and cell-based therapies for inherited retinal disorders: An update.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Review
- A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.PloS one · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
introductionChoroideremia is a rare, X-linked disorder recognized by its specific ocular phenotype as a progressive degenerative retinopathy resulting in blindness. New therapeutic approaches, primarily based on genetic mechanisms, have emerged that aim to prevent the progressive vision loss. AREAS COVERED: This article will review the research that has progressed incrementally over the past two decades from mapping to gene discovery, uncovering the presumed mechanisms triggering the retinopathy to preclinical testing of potential therapies. EXPERT OPINION: While still in an evaluative phase, the introduction of gene replacement as a potential therapy has been greeted with great enthusiasm by patients, advocacy groups and the medical community.
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.