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

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.

NCT Number	NCT06682819
Lead Sponsor	Hôpital Necker-Enfants Malades
Conditions	Healthy Subjects, Leber Hereditary Optic Neuropathy
Enrollment	90 participants
Start Date	2023-03-10
Primary Completion	2027-01 (estimated)
Study Completion	2028-01 (estimated)
Updated on ClinicalTrials.gov	2025-11-18