Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-60
SponsorHôpital Necker-Enfants Malades
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Patient carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with normal visual acuity and who has never had optic neuropathy, or Patient not carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with normal visual acuity and who has never had optic neuropathy;
Patient agreeing to undergo an OCT;
Patient agreeing to sign the informed consent;
Patient affiliated to French social protection (Primary Health Insurance Fund, CMU, etc.) or European social protection.
Disqualifiers
Patient with or having had optic neuropathy regardless of its etiology
Patient with glaucoma regardless of its etiology;
Patient not wanting to undergo OCT;
Patient not wanting to sign the informed consent;
Trial design
Design model
Single group
Treatments tested in this trial
Optical coherent tomography
Diagnostic testWe compare the metabolomics profile of healthy patients based on the OCT appearance of the optic disc and RNFL
Treatment groups
90 Participants
are divided into 1 treatment groupGroup A: Two arms will be constituted according to gender and crossed according to OCT dataOther 1 intervention
Trial outcomes
Primary outcomes
1
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 yearSecondary outcomes
1
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 year2
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 day3
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 year4
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 yearSponsors and contacts
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Source ClinicalTrials.gov