A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
NCT07729982 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50
Last updated 2026-07-28
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
Sponsors & Collaborators
-
Ludwig-Maximilians - University of Munich
lead OTHER
Principal Investigators
-
Maximilian-Joachim Gerhardt, Dr. med. · Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2026-07-16
- Primary Completion
- 2030-10-31
- Completion
- 2030-11-30
Countries
- Germany
Study Locations
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