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
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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
Primary outcome measure(s)
Change in 2.5% low-contrast visual acuity measured with Sloan letter charts — Baseline and follow-up visits up to 3 years 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.
Change in contrast sensitivity — Baseline and follow-up visits up to 3 years Change from baseline in contrast sensitivity measured using the Manifold® Platform from Adaptive Sensory Technology. The unit of measure is log contrast sensitivity.
Change in macular ganglion cell layer thickness measured by optical coherence tomography — Baseline and follow-up visits up to 3 years Change from baseline in macular ganglion cell layer thickness, or ganglion cell-inner plexiform layer thickness where applicable, measured by optical coherence tomography. The unit of measure is micrometers.
Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography — Baseline and follow-up visits up to 3 years Change from baseline in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography. The unit of measure is micrometers.
Trial sites (1)
Facility
City
Region
Status
Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München
Munich
Bavaria
Recruiting
More Ludwig-Maximilians - University of Munich trials in Germany
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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