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

NCT06682819 | Recruiting

• 2 other identifiers: MétabOCT-0220222022-A00537-36
• Study Type: interventional
• Target: 90
• Locations: 1 country
• Sites: 1

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.

Conditions

Healthy Subjects; Leber Hereditary Optic Neuropathy

Keywords

Leber hereditary optic neuropathy; Metabolomics analysis; OCT; mtDNA mutation

Outcome Measures

Primary Outcomes (1)

• 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

  Results of the metabolomics analysis in the different groups established according to the appearance of the OCT and gender in healthy patients carrying mtDNA mutations suggestive of LHON (11778, 3460 or 14484).

  one year

Secondary Outcomes (5)

• Metabolomic profile in tears 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.

  one year

• 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.

  one day

• To assess a visual acuity evolution depending on the metabolomic profiles.

  one year

• To assess a different OCT evolution depending on the metabolomic profiles.

  one year

• Comparison of vitamin B3 and B9 levels in healthy patients with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to macular OCT data and with a control population without mtDNA mutation.

  one year

Study Arms (1)

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

OTHER

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.

Diagnostic Test: Optical coherent tomography

Interventions

Optical coherent tomography DIAGNOSTIC_TEST

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

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

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

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

Sponsors & Collaborators

• Hôpital Necker-Enfants Malades: lead

Study Sites (1)

HEGP

Paris, Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Optic Atrophy, Hereditary, Leber

Condition Hierarchy (Ancestors)

Optic Atrophies, Hereditary; Optic Atrophy; Optic Nerve Diseases; Cranial Nerve Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Eye Diseases, Hereditary; Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Christophe Orssaud, MD

  Hopital Necker

  PRINCIPAL INVESTIGATOR

Central Study Contacts

christophe Orssaud, MD

CONTACT

33 +156093466; christophe.orssaud@aphp.fr

Pascal Reynier, MD PhD

CONTACT

PaReynier@chu-angers.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr

Study Record Dates

• First Submitted: October 30, 2024
• First Posted: November 12, 2024
• Study Start: March 10, 2023
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2028
• Last Updated: November 18, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)