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

NCT ID: NCT06682819

Last Updated: 2025-11-18

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 90 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-03-10
• Study Completion Date: 2028-01-31

Brief 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.

Detailed Description

The primary objective is to determine the 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.

Given the difference in the prevalence of NOHL in men and women, with a sex ratio of 7 men to 3 women, this primary objective will be evaluated separately in these 2 groups of people.

Secondary objectives include Determination of the cellular 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.

Determination of the metabolomic profile in tears of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optical fiber layer in OCT.

Comparison of the serum and cellular metabolomic profile of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation; Determination of a different clinical and paraclinical (OCT) evolution according to the metabolomic profiles.

Determination of vitamin B3 and B9 levels of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in the thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation.

For the reasons mentioned above, the secondary objectives will be studied separately in men and women with the constitution of 2 groups of patients.

Conditions

Healthy Subjects; Leber Hereditary Optic Neuropathy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

Two arms will be constituted according to gender and crossed according to OCT data

Considering the difference in NOHL prevalence in men and women, with a sex ratio of 7 men to 3 women, the metabolomic analysis data will be analyzed according to gender and OCT data.

Group Type: OTHER

Optical coherent tomography

Intervention Type: DIAGNOSTIC_TEST

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

Interventions

Optical coherent tomography

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

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Hôpital Necker-Enfants Malades

OTHER

Sponsor Role: lead

Responsible Party

Christophe Orssaud

Dr

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Christophe Orssaud, MD

Role: PRINCIPAL_INVESTIGATOR

Hopital Necker

Locations

HEGP

Paris, Paris, France

Site Status: RECRUITING

Countries

France

Central Contacts

christophe Orssaud, MD

Role: CONTACT

christophe.orssaud@aphp.fr

33 +156093466

Pascal Reynier, MD PhD

Role: CONTACT

PaReynier@chu-angers.fr

Facility Contacts

Christophe ORSSAUD, MD

Role: primary

christophe.orssaud@aphp.fr

33 1 56 09 34 98

Dominique Bremond Gignac, MD PhD

Role: backup

dominique.bremond@aphp.fr

33 1 44 49 45 02

Other Identifiers

2022-A00537-36

Identifier Type: OTHER

Identifier Source: secondary_id

MétabOCT-022022

Identifier Type: -

Identifier Source: org_study_id