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

NCT06682819 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 90

Last updated 2025-11-18

No results posted yet for this 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.

Conditions

  • Healthy Subjects
  • Leber Hereditary Optic Neuropathy

Interventions

DIAGNOSTIC_TEST

Optical coherent tomography

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

Sponsors & Collaborators

  • Hôpital Necker-Enfants Malades

    lead OTHER

Principal Investigators

  • Christophe Orssaud, MD · Hopital Necker

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-03-10
Primary Completion
2027-01-31
Completion
2028-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06682819 on ClinicalTrials.gov