An interventional study of Optical coherent tomography in Healthy Subjects and Leber Hereditary Optic Neuropathy, sponsored by Hôpital Necker-Enfants Malades. Recruiting at 1 site in France. Open to participants aged 18 Years to 60 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-11-18.
Sponsored by Hôpital Necker-Enfants Malades · Not applicable, Interventional, and Diagnostic
Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines. There is no biomarker to determine when optic nerve damage begins before visual acuity decline occurs.
We hope that the analysis of metabolomics will reveal specific metabolomic profiles and different vitamin B3 and B9 levels depending on whether there are OCT signs of optic nerve damage in healthy patients with mtDNA mutations suggestive of LHON (11778, 3460 or 14484). The existence of an increase in the thickness of the optic fiber layer, whose normal values are well established, constitutes such a sign in favor of optic nerve damage.
The primary objective is to determine the metabolomic profile of healthy patients carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in OCT.
Given the difference in the prevalence of NOHL in men and women, with a sex ratio of 7 men to 3 women, this primary objective will be evaluated separately in these 2 groups of people.
Secondary objectives include Determination of the cellular metabolomic profile of healthy patients carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in OCT.
Determination of the metabolomic profile in tears of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optical fiber layer in OCT.
Comparison of the serum and cellular metabolomic profile of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation; Determination of a different clinical and paraclinical (OCT) evolution according to the metabolomic profiles.
Determination of vitamin B3 and B9 levels of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in the thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation.
For the reasons mentioned above, the secondary objectives will be studied separately in men and women with the constitution of 2 groups of patients.
39 studies on the registry are indexed under Optic Atrophy, Hereditary, Leber; 9 are open to participants now.
This study's planned enrollment of 90 is above the median of 39 across 27 interventional studies indexed under Optic Atrophy, Hereditary, Leber.
Browse Optic Atrophy, Hereditary, Leber studies →Hôpital Necker-Enfants Malades is the lead sponsor of 22 studies on the registry; 5 are open to participants now.
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Exclusion Criteria:
Considering the difference in NOHL prevalence in men and women, with a sex ratio of 7 men to 3 women, the metabolomic analysis data will be analyzed according to gender and OCT data.
Diagnostic Test: Optical coherent tomography
We compare the metabolomics profile of healthy patients based on the OCT appearance of the optic disc and RNFL
Metabolomic profile of healthy patients carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in OCT
Results of the metabolomics analysis in the different groups established according to the appearance of the OCT and gender in healthy patients carrying mtDNA mutations suggestive of LHON (11778, 3460 or 14484).
Time frame: one year
Metabolomic profile in tears of healthy patients carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in OCT.
Results of the metabolome established on tears in the different groups established according to the appearance of the OCT and the gender in healthy patients carrying mtDNA mutation evocative of NOHL (11778, 3460 or 14484).
Time frame: one year
Cellular metabolomic profile of healthy patients carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in OCT.
Results of the cellular metabolome established on leukocytes in the different groups established according to the appearance of the OCT and the gender in healthy patients carrying mtDNA mutation evocative of NOHL (11778, 3460 or 14484).
Time frame: one day
To assess a visual acuity evolution depending on the metabolomic profiles.
Monitoring of the clinical evolution of visual acuity for one year in the different groups established according to the OCT appearance and gender in healthy patients carrying mtDNA mutations suggestive of NOHL (11778, 3460 or 14484). comparison with metabolomic profiles.
Time frame: one year
To assess a different OCT evolution depending on the metabolomic profiles.
Monitoring of the evolution of visual acuity and OCT data for one year in the different groups established according to the OCT appearance and gender in healthy patients carrying mtDNA mutations suggestive of NOHL (11778, 3460 or 14484). comparison with metabolomic profiles.
Time frame: one year
Comparison of vitamin B3 and B9 levels in healthy patients with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to macular OCT data and with a control population without mtDNA mutation.
Measurement of blood levels of vitamins B3 and B9 in different groups established according to OCT appearance and gender in healthy patients carrying mtDNA mutations suggestive of NOHL (11778, 3460 or 14484).
Time frame: one year
Plan to share: No
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