NICOTINAMIDE for Leber's hereditary optic neuropathy

Inclusion criteria

• {"criterion_text":"- Patients aged 16 years and older\n- Patients with NOHL due to a m.11778G>A or m.3460G>A mutation in mitochondrial DNA\n- Patients who are naïve (> 3 months) to nicotinamide treatment\n- Patients able to take oral medication and comply with specific study procedures\n- Patients affiliated with or beneficiaries of a social security system\n- Patients who have signed an informed consent form or parental consent form (or guardianship holders) for minors"}

Exclusion criteria

• {"criterion_text":"- Asymptomatic patients (= healthy carriers of a m.11778G>A or m.3460G>A mutation in mitochondrial DNA but who have not developed optic neuropathy)\n- Persons deprived of their liberty by administrative or judicial decision\n- Patients subject to legal protection measures\n- Persons undergoing compulsory psychiatric care\n- Individuals unable to express consent\n- Patients already included in an interventional study modifying the management of NOHL\n- Patients with symptomatic or asymptomatic LOHN caused by another mitochondrial DNA mutation or a nuclear DNA mutation\n- Patients with NOHL for more than 18 months\n- Patients taking idebenone or who have stopped treatment less than 3 months ago\n- Patients with another severe associated ophthalmological condition (advanced glaucoma, retinal disease, etc.)\n- Patients treated with gene therapy\n- Patients with transaminase (AST and/or ALT) levels twice the upper normal limit\n- Pregnant women, breastfeeding women, or women in labor\n- Patients with a contraindication to nicotinamide, an allergy or intolerance to lactose or galactose"}

Primary endpoints

• {"endpoint_text":"- The primary endpoint will be the change in corrected distance visual acuity measured eye by eye using the ETDRS (Early Treatment Diabetic Retinopathy Study) scale over the entire follow-up period (inclusion, 3, 6, 9, and 12 months).","definition_or_measurement_approach":"Change in corrected distance visual acuity measured eye-by-eye using the ETDRS scale at inclusion and at months 3, 6, 9 and 12 over the follow-up period."}

Secondary endpoints

• {"endpoint_text":"- corrected distance visual acuity measured eye by eye at 12 months using the ETDRS scale, taking the nadir (lowest visual acuity reached a few weeks after the onset of NOHL) as the reference value","definition_or_measurement_approach":"ETDRS scale at 12 months; reference is the nadir (lowest visual acuity reached a few weeks after onset of NOHL)."}
• {"endpoint_text":"- corrected distance visual acuity measured eye by eye on a Monoyer scale","definition_or_measurement_approach":"Measured eye-by-eye on a Monoyer scale."}
• {"endpoint_text":"- corrected near visual acuity measured eye by eye on a Parinaud scale","definition_or_measurement_approach":"Measured eye-by-eye on a Parinaud scale."}
• {"endpoint_text":"- campimetric deficits based on the average and corrected average deviation measured in STAT 30 on an automated visual field","definition_or_measurement_approach":"Automated visual field assessment using STAT 30; outcomes include average and corrected average deviation to quantify campimetric deficits."}
• {"endpoint_text":"- the appearance of the Goldman-type manual visual field","definition_or_measurement_approach":"Assessment of Goldman-type manual visual field appearance."}
• {"endpoint_text":"- changes in the thickness of the retinal nerve fiber layer (RNFL) and the thickness of the retinal ganglion cell complex (GCC) measured by OCT (Optical Coherence Tomography)","definition_or_measurement_approach":"Optical Coherence Tomography (OCT) measurements of RNFL and GCC thickness changes."}
• {"endpoint_text":"- Patients' quality of life assessed using the NEI VFQ 25 questionnaire","definition_or_measurement_approach":"Patient-reported quality of life using the NEI VFQ-25 questionnaire."}
• {"endpoint_text":"- The biological efficacy of the treatment assessed by the evolution of nicotinamide in patients' blood at 3 and 12 months","definition_or_measurement_approach":"Measurement of nicotinamide levels in patient blood at months 3 and 12 to assess biological efficacy."}
• {"endpoint_text":"- Hepatic toxicity assessed by transaminase levels","definition_or_measurement_approach":"Monitoring transaminase (AST/ALT) levels to assess hepatic toxicity."}
• {"endpoint_text":"- Optical coherence tomography (OCT) changes in the macula","definition_or_measurement_approach":"OCT assessment of macular structural changes."}

France

Earliest CTIS Part Ii Submission Date

05-02-2026

Latest Decision Or Authorization Date

09-04-2026

Processing Time Days

63

Number Of Sites

2

Number Of Participants

13

Primary sponsor

Full Name

Centre Hospitalier Universitaire D'Angers

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

France