Pilot study of safety and efficacy of nicotinamide (vitamin B3) in OPA1 Dominant Optic Atrophy -NICOPA1-TO

Phase 1

Recruiting

Conditions: Dominant Optic Atrophy
Therapeutic area: Diseases [C] - Nervous System Diseases [C10]

Registration Number: CTIS2023-506214-52-00

Lead Sponsor: Centre Hospitalier Universitaire D Angers

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 25

Inclusion Criteria

Major patients, Patients with DOA or DOA+ due to a heterozygous pathogenic variant in the OPA1 gene, Nicotinamide-naïve patients (> 3 months), Patients able to take oral medication, and comply with specific study procedures, Patients affiliated with or benefiting from a social security scheme, Signature of voluntary, free and informed consent to participate in the study

Exclusion Criteria

Asymptomatic patients (= healthy carriers of an OPA1 mutation who have not developed optic neuropathy), Persons unable to give consent, Patients with other associated severe ophthalmological pathologies (advanced glaucoma, retinal pathology)., Patients treated with Idebenone, Patients with transaminase levels (ASAT and/or ALAT) twice the high normal value, Pregnant, breast-feeding or parturient women, Patients with a contraindication to nicotinamide, Person deprived of liberty by administrative or judicial decision, Patients under legal protection, Persons under compulsory psychiatric care

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: The main objective is to evaluate the tolerability of 3 grams per day of nicotinamide in DOA/DOA+ patients to ensure that this treatment does not induce ophthalmological or neurological toxic side effects.;Secondary Objective: To evaluate the efficacy of treatment on visual function by electroretinogram, measuring visual acuity, visual field and thickness of visual fibers in the optic disc using OCT (optical coherence tomography)., Biological efficacy will be assessed by measuring nicotinamide levels in patients' blood (plasma and whole blood) at baseline and follow-up., To evaluate the effectiveness of treatment on patients' quality of life using the NEI VFQ 25 self-questionnaire., To evaluate the neurological efficacy of treatment in DOA+ forms.;Primary end point(s): The primary endpoint will be assessed by the number of patients with reported ophthalmological and/or neurological adverse events.

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s):Number of patients with improved visual function at follow-up visits compared with baseline at inclusion.;Secondary end point(s):Increase in plasma and whole blood nicotinamide levels in all patients, comparing baseline at inclusion with two follow-up periods.;Secondary end point(s):Differences on the NEI-VFQ-25 scale between M0 and M6;Secondary end point(s):Clinical neurological improvement at follow-up visits compared with baseline at inclusion.