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Biomarker and diagnostic research for hereditary optic neuropathy has been reported in the published literature.
7 clinical trials registered, 4 recruiting. Interventions under study include drug therapy, medical devices, other interventions, and gene therapy. Pipeline includes 1 PHASE3, 1 PHASE2, 2 PHASE1. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT03475173](https://clinicaltrials.gov/study/NCT03475173) |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
New Non-invasive Modalities for Assessing Retinal Structure and Function |
NA |
Randy Kardon |
RECRUITING |
[NCT06682819](https://clinicaltrials.gov/study/NCT06682819) | Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT) | NA | Hôpital Necker-Enfants Malades | RECRUITING |
[NCT03011541](https://clinicaltrials.gov/study/NCT03011541) | Stem Cell Ophthalmology Treatment Study II | NA | MD Stem Cells | RECRUITING |
[NCT04912843](https://clinicaltrials.gov/study/NCT04912843) | Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy | PHASE2 | Wuhan Neurophth Biotechnology Limited Company | RECRUITING |
[NCT07258667](https://clinicaltrials.gov/study/NCT07258667) | Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy | PHASE1 | University Hospital, Angers | NOT_YET_RECRUITING |
224 publications have been identified in PubMed for hereditary optic neuropathy. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 60 | 27% |
Laboratory research | 49 | 22% |
Research summaries | 33 | 15% |
Disease patterns and progression | 29 | 13% |
New treatment approaches | 22 | 10% |
Testing and diagnosis research | 15 | 7% |
Clinical study results | 11 | 5% |
Other research | 5 | 2% |
Gök A (2026). [PMID: 42172467](https://pubmed.ncbi.nlm.nih.gov/42172467/). *Turk J Pediatr*. [Case Report / Case Series]
Xi L (2026). [PMID: 42244326](https://pubmed.ncbi.nlm.nih.gov/42244326/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Case Report / Case Series]
Takai Y (2026). [PMID: 40601176](https://pubmed.ncbi.nlm.nih.gov/40601176/). *Jpn J Ophthalmol*. [Diagnostic / Biomarker]
Alavi MV (2026). [PMID: 42101483](https://pubmed.ncbi.nlm.nih.gov/42101483/). *Expert Opin Ther Targets*. [Review / Meta-Analysis]
Takai Y (2026). [PMID: 42140845](https://pubmed.ncbi.nlm.nih.gov/42140845/). *Clin Exp Ophthalmol*. [Diagnostic / Biomarker]
Alghamdi LN (2026). [PMID: 42131170](https://pubmed.ncbi.nlm.nih.gov/42131170/). *Neuroophthalmology*. [Review / Meta-Analysis]
Levergood NR (2026). [PMID: 41411089](https://pubmed.ncbi.nlm.nih.gov/41411089/). *J Neuroophthalmol*. [Epidemiology / Natural History]
De Napoli G (2026). [PMID: 41483035](https://pubmed.ncbi.nlm.nih.gov/41483035/). *Neurol Sci*. [Case Report / Case Series]
Arany ES (2026). [PMID: 40346165](https://pubmed.ncbi.nlm.nih.gov/40346165/). *Eur J Hum Genet*. [Case Report / Case Series]
Iwaki Y (2026). [PMID: 41553591](https://pubmed.ncbi.nlm.nih.gov/41553591/). *Doc Ophthalmol*. [Diagnostic / Biomarker]
AI-curated news mentioning hereditary optic neuropathy
Updated May 17, 2026
A recent study highlights a case of Wernicke encephalopathy characterized by severe optic neuropathy and oculomotor dysfunction. This research adds to the understanding of the neurological manifestations associated with this condition.