A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
Recruiting now
Conditions studied: OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
In brief
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.
Key facts
- Study ID
- NCT07729982
- Run by
- Ludwig-Maximilians - University of Munich
- People needed
- 50
- Starts
- 2026-07-16
- Expected to finish
- 2030-11-01
- Last updated by the study team
- 2026-07-28
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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)
You may not qualify if…
- Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations
Where it is running
- Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München — Munich, Bavaria, Germany (enrolling)
Full record on ClinicalTrials.gov
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