A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorLudwig-Maximilians - University of Munich
About this trial
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
None
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Ludwig-Maximilians - University of Munich
Lead sponsor
LMU Klinikum
Sponsor institution
Source ClinicalTrials.gov