A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy

Ludwig-Maximilians - University of Munich50 enrolled

Overview

This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. Participants will undergo standardized ophthalmic and functional assessments, including visual acuity testing, visual field testing, color vision and contrast sensitivity testing, optical coherence tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based ocular motor and pupillary measurements. The study aims to characterize disease severity and progression over time and to identify structural, metabolic, and functional biomarkers that may serve as clinical endpoints for future therapeutic studies.

Study Type

OBSERVATIONAL

Enrollment

Conditions

OPA1 Gene Mutation Optic Atrophy, Autosomal Dominant

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Age 6 years or older * Clinical diagnosis or clinical features consistent with optic atrophy * Molecular genetic confirmation of a pathogenic or likely pathogenic variant in the OPA1 gene * Ability of the participant, or the participant's parent or legal guardian, to understand the nature of the study and provide written informed consent (Participants are eligible for inclusion if all of the criteria mentioned above are met) Exclusion Criteria: \- Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations

Outcomes

Primary Outcomes

Change in 2.5% low-contrast visual acuity measured with Sloan letter charts

Change from baseline in low-contrast visual acuity measured using 2.5% low-contrast Sloan letter charts. Low-contrast visual acuity will be recorded as the number of Sloan letters correctly read and may be converted to logMAR for analysis. The unit of measure is number of Sloan letters correctly read.