Actively Recruiting
Metabolomics Analysis According to the Thickness of the Retinal Nerve Fiber Layer in Patients With NOHL Mutations
Led by Hôpital Necker-Enfants Malades · Updated on 2025-11-18
90
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Leber hereditary optic neuropathy (LHON) is a condition caused by mitochondrial DNA mutations that leads to severe vision loss. Researchers are investigating the metabolomic profiles and vitamin B3 and B9 levels in healthy individuals who carry these mtDNA mutations, with or without signs of optic nerve damage detected by optical coherence tomography (OCT). The study aims to find biomarkers that identify early optic nerve damage before vision declines, considering differences in male and female prevalence. Participants will undergo metabolomic analysis based on OCT findings, focusing on the thickness of the retinal nerve fiber layer. The study separates groups by gender due to differing LHON prevalence and compares metabolomic data and vitamin levels in patients with and without increased optic fiber thickness. The intervention involves diagnostic OCT to assess optic disc and retinal nerve fiber layer characteristics. Throughout the study, participants will have OCT scans and metabolic profiling from blood and tear samples. Researchers will track changes in visual acuity and OCT measurements over one year, comparing profiles by gender and mutation status. The main outcome is the metabolomic profile related to optic nerve fiber layer thickness, with secondary outcomes including tear metabolomics, cellular profiles, vitamin levels, and clinical changes. Participation involves consenting adults aged 18 to 60 with or without the mtDNA mutations, monitored for one year.
CONDITIONS
Brief Title
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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 such mtDNA mutation with normal visual acuity and no history of optic neuropathy
- Patient agreeing to undergo an optical coherence tomography (OCT) scan
- Patient agreeing to sign the informed consent
- Patient affiliated to French or European social protection
You will not qualify if you...
- Patient with or having had optic neuropathy of any cause
- Patient with glaucoma of any cause
- Patient unwilling to undergo OCT
- Patient unwilling to sign the informed consent
- Patient not affiliated with French or European social protection
- Patients younger than 18 years or older than 60 years
- Pregnant patient
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo optical coherence tomography (OCT) and metabolomic profile assessments including blood, tears, and cellular samples to evaluate the retinal nerve fiber layer thickness and metabolomic markers.
1 visit (in-person)
Duration - 1 year
Participants are followed to assess changes in visual acuity, OCT findings, and metabolomic profiles over time.
Periodic visits over 1 year
Trial Site Locations
Total: 1 location
1
HEGP
Paris, Paris, France, 75015
Actively Recruiting
Research Team
C
christophe Orssaud, MD
P
Pascal Reynier, MD PhD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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