Trial reportArchives of ophthalmology (Chicago, Ill. : 1960)2010
Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.
Trial report in Archives of ophthalmology (Chicago, Ill. : 1960), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses 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
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Ocular gene therapy targeting retinal angiogenesis and vascular leakage: translational and clinical evidence from a systematic review and meta-analysis.Angiogenesis · 2026Pooled it
- Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.BioMed research international · 2023Pooled it
- Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial.JAMA ophthalmology · 2014Trial
- Visual Neurorestoration: An Expert Review of Current Strategies for Restoring Vision in Humans.Brain sciences · 2025Review
- Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.Journal of biomedical science · 2023Article
- Leber Hereditary Optic Neuropathy: Molecular Pathophysiology and Updates on Gene Therapy.Biomedicines · 2022Review
- The Relationship Between Stage of Leber's Hereditary Optic Neuropathy and Pattern Electroretinogram Latency.Translational vision science & technology · 2022Article
- Foveal pit morphological changes in asymptomatic carriers of the G11778A mutation with Leber's hereditary optic neuropathy.International journal of ophthalmology · 2020Article
- RE-PERG, a new paradigm for glaucoma diagnosis, in myopic eyes.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Indian journal of ophthalmology · 2017Review
- The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.Mitochondrion · 2017Article
- RE-PERG, a new procedure for electrophysiologic diagnosis of glaucoma that may improve PERG specificity.Clinical ophthalmology (Auckland, N.Z.) · 2017Article
- Magnetomitotransfer: An efficient way for direct mitochondria transfer into cultured human cells.Scientific reports · 2016Article
- Emerging therapies for mitochondrial disorders.Brain : a journal of neurology · 2016Review
- Can Variability of Pattern ERG Signal Help to Detect Retinal Ganglion Cells Dysfunction in Glaucomatous Eyes?BioMed research international · 2015Article
- LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile.Investigative ophthalmology & visual science · 2014Article
- Development of pharmacological strategies for mitochondrial disorders.British journal of pharmacology · 2014Review
- Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial.JAMA ophthalmology · 2014Observational
- Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy.Investigative ophthalmology & visual science · 2014Article
- Therapeutic strategies for Leber's hereditary optic neuropathy: A current update.Intractable & rare diseases research · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo describe the patient profiles of the Leber hereditary optic neuropathy (LHON) Gene Therapy Clinical Trial, year 1. This study aims to identify and characterize affected patients and carriers with the G11778A mutation in mitochondrial DNA for planned gene therapy that will use "allotopic expression" by delivering a normal nuclear-encoded ND4 gene into the nuclei of retinal ganglion cells via an adeno-associated virus vector injected into the vitreous.
methodsPatients with LHON with visual loss as well as asymptomatic maternally related family members were molecularly screened for ND1, ND4, and ND6 mutations in mitochondrial DNA commonly associated with LHON. All patients and maternal relatives also underwent complete neuro-ophthalmic examination, automated visual field testing, pattern electroretinogram (PERG), and OCT3.
resultsTwenty-five subjects with LHON and 21 carriers positive for the G11778A mitochondrial DNA mutation were recruited. Three additional mutations in the ND4 gene, G11719A, G11947A, or G11914A, were detected. Mean retinal nerve fiber layer (RNFL) thickness was 78.3 μm up to 32 months after visual loss. It was 63.5 μm for all affected patients and 100.7 μm for carriers (P < .01). Mean PERG amplitude was lower in affected patients (40% of normal) than in carriers (94% of normal) (P < .01). Four carriers with PERG amplitudes less than 75% of normal had Early Treatment Diabetic Retinopathy Study acuity more than 20/25, mean defect more than -2 dB, and average RNFL thickness more than 80 μm.
conclusionsPotential candidates for future gene therapy may include affected patients, as late as 32 months after loss of vision, with mildly reduced RNFL thickness or carriers with low PERG amplitudes and normal RNFL thickness, if the PERG amplitude is a predictor of conversion to LHON in these carriers.
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.