Metabolomics analysis in patients with specific mitochondrial DNA mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Hegp
  Paris, Paris, France Recruiting

Study contacts

• Principal investigator: Christophe Orssaud, MD — Hopital Necker
• Study coordinator: christophe Orssaud, MD
• Email: christophe.orssaud@aphp.fr
• Phone: 33 +156093466

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.