Actively Recruiting
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Led by Hôpital Necker-Enfants Malades · Updated on 2025-11-18
90
Participants Needed
1
Research Sites
251 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official 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 vision and no history of optic neuropathy, or patient without these mutations with normal vision and no history of optic neuropathy
- Patient agrees to have an optical coherence tomography (OCT) scan
- Patient agrees to sign informed consent
- Patient is covered by French or European social health insurance
You will not qualify if you...
- History or current diagnosis of optic neuropathy from any cause
- History or current diagnosis of glaucoma from any cause
- Patient refuses OCT scan
- Patient refuses to sign informed consent
- Patient not covered by French or European social health insurance
- 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
Trial Site Locations
Total: 1 location
1
HEGP
Paris, Paris, France, 75015
Actively Recruiting
Research Team
C
christophe Orssaud, MD
CONTACT
P
Pascal Reynier, MD PhD
CONTACT
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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