A Phase 1 interventional study of Nicotinamide treatment in Leber Hereditary Optic Neuropathy (LHON), Leber's Hereditary Optic Neuropathy (LHON) and Mitochondrial Disease, sponsored by University Hospital, Angers. Not yet recruiting at 1 site in France. Open to participants aged 16 Years and older. Per ClinicalTrials.gov, last updated 2025-12-18.
Sponsored by University Hospital, Angers · Phase 1, Interventional, and Treatment
Leber Hereditary Optic Neuropathy (LHON) is a rare genetic disease that causes sudden and severe vision loss, usually in young adults. It is linked to mutations in mitochondrial DNA that impair energy production in retinal ganglion cells, leading to degeneration of the optic nerve. Currently, treatment options are very limited and often ineffective. Recent research has shown that patients with LHON have lower levels of nicotinamide (vitamin B3), a key molecule for mitochondrial energy metabolism. Nicotinamide is a precursor of NAD, an essential cofactor for cellular energy production. Experimental studies and clinical trials in related optic nerve diseases suggest that nicotinamide may protect retinal ganglion cells. Our hypothesis is that supplementation with high-dose nicotinamide could restore NAD levels, support mitochondrial activity, and help preserve or improve vision in LHON. This pilot study will evaluate the effectiveness and safety of oral nicotinamide (2 grams per day for 12 months) in patients who developed LHON within the past 18 months and carry one of the two most severe mutations (m.11778G>A or m.3460G>A). The main goal is to measure changes in visual acuity over time using standardized eye charts. Secondary objectives include assessing visual fields, retinal structure by optical coherence tomography (OCT), blood nicotinamide levels, and quality of life. Liver function will be monitored to ensure safety. If this study shows promising results, it could pave the way for a larger randomized trial and ultimately offer a new therapeutic option.
44 studies on the registry are indexed under Optic Atrophy, Hereditary, Leber; 9 are open to participants now.
This study's planned enrollment of 13 is below the median of 36 across 31 interventional studies indexed under Optic Atrophy, Hereditary, Leber.
Browse Optic Atrophy, Hereditary, Leber studies →University Hospital, Angers is the lead sponsor of 478 studies on the registry; 120 are open to participants now.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Drug: Nicotinamide treatment
All participants receive nicotinamide (vitamin B3) at a dose of 2 grams per day for 12 months. This is an open-label, single-arm study where each patient serves as their own control. Outcomes will be compared longitudinally to baseline measurements.
To evaluate the efficacy of administering 2 grams per day of nicotinamide for 12 months in patients who have developed NOHL due to an m.11778G>A or m.3460G>A mutation within the last 18 months.
Evaluation by the change in corrected distance visual acuity measured eye by eye on an ETDRS (Early Treatment Diabetic Retinopathy Study) scale over the entire follow-up period.
Time frame: inclusion, 3 months, 6 months, 9 months, and 12 months
The effectiveness of treatment on the progression of corrected distance visual acuity
Measurement eye by eye using the ETDRS scale, taking the nadir (lowest visual acuity reached a few weeks after the onset of NOHL) as the reference value.
Time frame: 12 months
The effectiveness of treatment on the evolution of corrected distance visual acuity
Measurement eye by eye on a Monoyer scale. Reading capital letters at a distance of 5 meters. Each line on the wall-mounted optometric chart corresponds to 1/10 of visual acuity.The dimensions of the letters are such that they measure 5 times the distance of discrimination corresponding to the measured visual acuity.0.4/10 is low visual acuity and 20/10 is good visual acuity.
Time frame: inclusion, 3 months, 6 months, 9 months and 12 months
The effectiveness of treatment on the evolution of corrected near visual acuity
Measurement eye by eye on a Parinaud scale; different sizes of typeface is placed at 33cm. The test consists of a text whose paragraphs are written in decreasing font sizes. The result is expressed in P (P1.5 to P50). The higher the P, the poorer the acuity.
Time frame: inclusion, 3 months, 6 months, 9 months and 12 months
The effectiveness of treatment on the evolution of Campimetric deficits
The average and corrected average deviation measured in STAT 30 on an automated visual field
Time frame: inclusion, 3 months, 6 months, 9 months and 12 months
The effectiveness of treatment on the evolution of the appearance of visual field
By the Goldman-type manual
Time frame: inclusion, 3 months, 6 months, 9 months and 12 months
The effectiveness of treatment on the evolution of optic nerve fiber layer (RNFL) thickness
Measurement by optical coherence tomography (OCT)
Time frame: inclusion, 3 months, 6 months, 9 months and 12 months
The effectiveness of treatment on the evolution of retinal ganglion cell complex (GCC)
Measurement by optical coherence tomography (OCT)
Time frame: inclusion, 3 months, 6 months, 9 months and 12 months
The effectiveness of treatment on the evolution of Patients' quality of life
NEI VFQ 25 questionnaire. Individual scores are recoded and transformed on a scale of 0 to 100, where 100 represents the best possible functioning and 0 the worst. An average score is calculated for each of the 12 subscales.
Time frame: inclusion and 12 months
Biological efficacy of treatment
Nicotinamide levels in patients' blood
Time frame: 3 and 12 months
Treatment tolerance on Hepatic toxicity
Transaminase levels
Time frame: Inclusion, 3 months, 6 months, 9 months, 12 months
Treatment tolerance in the macula
Measurement by optical coherence tomography
Time frame: Inclusion, 3 months, 6 months, 9 months, 12 months
Plan to share: Yes — Data will be shared upon reasonable request. Only de-identified data will be shared. Any data collected during the study may be shared. The protocol will be shared initially. Other documents may be shared at a later date upon request (e.g., the CRF to allow a collaborator to select the data they wish to access). The recipients of the data will be researchers. The data will be available for any purpose deemed relevant by the study investigator, based on a protocol provided by the requester, after verification of the obtaining of regulatory approvals, including the favorable opinion of an ethics committee. Supporting information
Supporting information: Study protocol
Time frame: The data will be shared after signing a negotiated data transfer agreement ( data access agreement), for the duration specified in the agreement
Access criteria: The data will be made available via secure transfer (sharing platform approved by the university hospital: BlueFiles or Oodrive).
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in Dec 2025. You cannot join it, but the record below documents what was studied.
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