Healthy SubjectsMétabOCTNCT06682819
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
A study testing Optical coherent tomography in people with Healthy Subjects and Leber Hereditary Optic Neuropathy, run by Hôpital Necker-Enfants Malades at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Healthy Subjects, Leber Hereditary Optic Neuropathy
- What is being tested?
- Optical coherent tomography
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 90 participants
- Where
- 1 siteFrance
- Study dates
- 10 Mar 2023to Jan 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Pascal Reynier, MD PhD contact
France1 site, 1 recruiting
- Recruiting
HEGP
Paris, Paris, 75015
Christophe ORSSAUD, MD, 33 1 56 09 34 98, christophe.orssaud@aphp.fr
Dominique Bremond Gignac, MD PhD, 33 1 44 49 45 02, dominique.bremond@aphp.fr
About this study
Official title: Metabolomics Analysis According to the Thickness of the Retinal Nerve Fiber Layer in Patients With NOHL Mutations
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.
Read the detailed description
The primary objective is to determine the 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.
Given the difference in the prevalence of NOHL in men and women, with a sex ratio of 7 men to 3 women, this primary objective will be evaluated separately in these 2 groups of people.
Secondary objectives include Determination of the 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.
Determination of the metabolomic profile in tears of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optical fiber layer in OCT.
Comparison of the serum and cellular metabolomic profile of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation; Determination of a different clinical and paraclinical (OCT) evolution according to the metabolomic profiles.
Determination of vitamin B3 and B9 levels of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in the thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation.
For the reasons mentioned above, the secondary objectives will be studied separately in men and women with the constitution of 2 groups of patients.
- Being tested
- Optical coherent tomography
- Keywords
- Leber hereditary optic neuropathy, Metabolomics analysis, OCT, mtDNA mutation
- Medical subject headings
- Optic Atrophy, Hereditary, Leber
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Optical coherent tomographyDiagnostic test
We compare the metabolomics profile of healthy patients based on the OCT appearance of the optic disc and RNFL
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Diagnostic Test: Optical coherent tomography |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Results of the metabolome established on tears in the different groups established according to the appearance of the OCT and the gender in healthy patients carrying mtDNA mutation evocative of NOHL (11778, 3460 or 14484).
Measured: 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.
Results of the cellular metabolome established on leukocytes in the different groups established according to the appearance of the OCT and the gender in healthy patients carrying mtDNA mutation evocative of NOHL (11778, 3460 or 14484).
Measured: one day
To assess a visual acuity evolution depending on the metabolomic profiles.
Monitoring of the clinical evolution of visual acuity for one year in the different groups established according to the OCT appearance and gender in healthy patients carrying mtDNA mutations suggestive of NOHL (11778, 3460 or 14484). comparison with metabolomic profiles.
Measured: one year
To assess a different OCT evolution depending on the metabolomic profiles.
Monitoring of the evolution of visual acuity and OCT data for one year in the different groups established according to the OCT appearance and gender in healthy patients carrying mtDNA mutations suggestive of NOHL (11778, 3460 or 14484). comparison with metabolomic profiles.
Measured: 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.
Measurement of blood levels of vitamins B3 and B9 in different groups established according to OCT appearance and gender in healthy patients carrying mtDNA mutations suggestive of NOHL (11778, 3460 or 14484).
Measured: one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Nov 2024
- Study start10 Mar 2023
- Primary completionJan 2027 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Healthy SubjectsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hôpital Necker-Enfants Malades
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christophe Orssaud, Hôpital Necker-Enfants Malades
- Investigators
- Christophe Orssaud, MD, Principal investigator, Hopital Necker
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06682819
- Sponsor's protocol ID
- MétabOCT-022022
- Other IDs
- 2022-A00537-36
- Acronym
- MétabOCT
- Status last verified
- Nov 2025
- First submitted
- 30 Oct 2024
- Last updated
- 18 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolomics Analysis According to the Thickness of the Retinal Nerve Fiber Layer in Patients With NOHL Mutations
- ClinicalTrials.gov ID
- NCT06682819
- Acronym / sponsor ID
- MétabOCT / MétabOCT-022022
- Keywords
- Leber hereditary optic neuropathy, Metabolomics analysis, OCT, mtDNA mutation
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Hôpital Necker-Enfants MaladesUniversity, hospital or other
- Study start
- 10 Mar 2023 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 12 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The primary objective is to determine the 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.
Given the difference in the prevalence of NOHL in men and women, with a sex ratio of 7 men to 3 women, this primary objective will be evaluated separately in these 2 groups of people.
Secondary objectives include Determination of the 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.
Determination of the metabolomic profile in tears of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with or without increased thickness of the optical fiber layer in OCT.
Comparison of the serum and cellular metabolomic profile of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation; Determination of a different clinical and paraclinical (OCT) evolution according to the metabolomic profiles.
Determination of vitamin B3 and B9 levels of healthy with an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) according to the existence or not of an increase in the thickness of the optical fiber layer in macular OCT and with a control population without mtDNA mutation.
For the reasons mentioned above, the secondary objectives will be studied separately in men and women with the constitution of 2 groups of patients.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Two arms will be constituted according to gender and crossed according to OCT data | Other | Diagnostic Test: Optical coherent tomographyConsidering 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. |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Optical coherent tomographyWe compare the metabolomics profile of healthy patients based on the OCT appearance of the optic disc and RNFL | Diagnostic test | Two arms will be constituted according to gender and crossed according to OCT data |
Primary outcome
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
Time frame: one year
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).
5 secondary outcomes
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.
Time frame: 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.
Time frame: one day
To assess a visual acuity evolution depending on the metabolomic profiles.
Time frame: one year
To assess a different OCT evolution depending on the metabolomic profiles.
Time frame: 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.
Time frame: one year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Nov 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Pascal Reynier, MD PhD contact
Christophe Orssaud, MD principal investigator
Hopital Necker
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Optical coherent tomography in people with Healthy Subjects and Leber Hereditary Optic Neuropathy, run by Hôpital Necker-Enfants Malades at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact christophe Orssaud, MD (33 +156093466, christophe.orssaud@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: one year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Nov 2025.