Metabolomics analysis in patients with specific mitochondrial DNA mutations

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

This study is testing the metabolic differences in healthy people with specific mitochondrial DNA mutations linked to Leber hereditary optic neuropathy to see if they can help spot early signs of optic nerve damage.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 90 (estimated)
• Ages: 18 Years to 60 Years
• Sex: All
• Sponsor: Hôpital Necker-Enfants Malades (Academic / other)
• Locations: 1 site (Paris, Paris)
• Trial ID: NCT06682819 on ClinicalTrials.gov

What this trial studies

This study investigates the metabolomic profiles of healthy individuals carrying mitochondrial DNA mutations associated with Leber hereditary optic neuropathy (LHON). It aims to identify differences in metabolomic profiles and vitamin B3 and B9 levels based on the presence of optic nerve damage as indicated by optical coherence tomography (OCT). The study will evaluate these profiles separately in men and women due to the differing prevalence of LHON. By comparing these profiles with a control group, the research seeks to establish biomarkers for early optic nerve damage.

Who should consider this trial

Good fit: Ideal candidates are healthy individuals aged 18 to 60 with specific mtDNA mutations (11778, 3460, or 14484) and normal visual acuity.

Not a fit: Patients with a history of optic neuropathy or glaucoma, as well as those outside the specified age range or without the required mtDNA mutations, may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to the identification of early biomarkers for optic nerve damage in patients with LHON, potentially allowing for earlier intervention.

How similar studies have performed: While the approach of using metabolomics in this context is relatively novel, similar studies have shown promise in identifying biomarkers for other conditions.

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

Where this trial is running

Paris, Paris

• Hegp — Paris, Paris, France (Recruiting)

Study contacts

• Principal investigator: Christophe Orssaud, MD — Hopital Necker
• Study coordinator: christophe Orssaud, MD

Conditions Healthy Subjects; Leber Hereditary Optic Neuropathy; Leber hereditary optic neuropathy; Metabolomics analysis; OCT; mtDNA mutation