A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy | NCT07729982

NCT07729982

Overview

NCT ID: NCT07729982
Lead Sponsor: Ludwig-Maximilians - University of MunichOTHER
Official Title: Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy
Brief Summary: 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.
Conditions: OPA1 Gene Mutation
Optic Atrophy, Autosomal Dominant

Ages Eligible for Study: Child (0-17)Adult (18-64)Older Adult (65+)
Sexes Eligible for Study: All
Accepts Healthy Volunteers?: No
Eligibility Criteria: 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

Central Contacts: Sarah MarxsenContact
sarah.marxsen@med.uni-muenchen.de+49 89 4400 53770