Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)

NCT06682819 · tracked via the Priya Life Science France tracker

Sponsor

Hôpital Necker-Enfants Malades

Phase

Not applicable

Started

2023-03-10

Last updated

2025-11-18

Condition(s) studied

Healthy SubjectsLeber Hereditary Optic Neuropathy

Investigational drug(s) / intervention(s)

Optical coherent tomography

Optical coherent tomography: We compare the metabolomics profile of healthy patients based on the OCT appearance of the optic disc and RNFL

Study summary

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

Sex

ALL

Min age

18 Years

Max age

60 Years

Healthy volunteers

Accepted

Inclusion Criteria: * 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. Exclusion Criteria: * 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; * Patient not affiliated with French social protection (Primary Health Insurance Fund, CMU, etc.) or European. * Patients less than 18 years old or over 60 years old * Pregnant patient

Primary outcome measure(s)

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 — one year
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).

Trial sites (1)

Facility	City	Region	Status
HEGP	Paris	Paris	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06682819 on ClinicalTrials.gov ↗ ← All trials in France