RecruitingNot ApplicableNCT06682819

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

Metabolomics Analysis According to the Thickness of the Retinal Nerve Fiber Layer in Patients With NOHL Mutations

Sponsor

Hôpital Necker-Enfants Malades

Enrollment

90 participants

Start Date

Mar 10, 2023

Study Type

INTERVENTIONAL

Conditions

Healthy Subjects Leber Hereditary Optic Neuropathy

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

Min Age: 18 YearsMax Age: 60 Years

Inclusion Criteria4

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 Criteria7

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

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