Tolerance and Efficacy Nicotinamide (vitamin B3) in Dominant Optic Atrophy OPA1 (NICOPA1-TOL)

University Hospital, Angers

Status and phase

Enrolling

Phase 3

Phase 2

Conditions

Nicotinamide Adverse Reaction

Treatments

Drug: Nicotinamide

Study type

Interventional

Funder types

Other

Identifiers

NCT06007391

49RC23_0195

Details and patient eligibility

About

Dominant Optic Atrophy (hereafter known as DOA) is a neurodegenerative pathology of the optic nerve inducing progressive loss of central visual field and visual acuity. There is currently no proven treatment for this disease. The metabolomics work of Pascal Reynier's team revealed a specific metabolomic signature of DOA in the plasma of patients. This metabolomic signature revealed a relative deficiency in nicotinamide compared to a control population, a vitamin compound (vitamin B3) known to be neuroprotective for the optic nerve and mitochondria. Note that the investigator have also identified this nicotinamide deficiency in primary open-angle glaucoma and Leber's hereditary optic neuropathy, the other most common cause of hereditary optic neuropathy, these three optic nerve conditions sharing a common pathophysiological mechanism of mitochondrial deficit. In addition, an American team demonstrated the high neuroprotective power on the optic nerve of nicotinamide in a mouse model of glaucoma. These arguments converge towards the potential therapeutic interest of this vitamin in degenerative pathologies of the optic nerve. This is encouraged by the fact that two randomized clinical trials have confirmed a benefit of nicotinamide in glaucoma. The objective of this pilot study is to test the tolerance and efficacy of nicotinamide in DOA and DOA+ patients.

Enrollment

25 estimated patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Adult patients
Patients with DOA or DOA+ due to a heterozygous pathogenic variant in the OPA1 gene
Naïve patients (> 3 months) in terms of taking nicotinamide
Patients able to take oral medication and comply with specific study procedures
Patients affiliated or beneficiaries of 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 but not having developed optic neuropathy)
Patients with another associated severe ophthalmological pathology (advanced glaucoma, retinal pathology, etc.)
Patients treated with Idebenone
Patients with a level of transaminase(s) (ASAT and/or ALAT) twice higher than the high normal value.
Pregnant, breastfeeding or parturient women
Patients with a contraindication to nicotinamide
Persons deprived of liberty by administrative or judicial decision
Patients subject to a legal protection measure
Persons undergoing psychiatric treatment under duress
Persons unable to express their consent