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

Recruiting now · Not applicable

Conditions studied: Healthy Subjects, Leber Hereditary Optic Neuropathy

In brief

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.

Key facts

Study ID

NCT06682819

Run by

Hôpital Necker-Enfants Malades

People needed

90

Starts

2023-03-10

Expected to finish

2028-01-01

Last updated by the study team

2025-11-18

Who can join

Age: 18 and older, up to 60. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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

Where it is running

• HEGP — Paris, Paris, France (enrolling)

Full record on ClinicalTrials.gov

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