A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy (NCT07729982) | Clinical Trial Compass
RecruitingNot Applicable
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
Germany50 participantsStarted 2026-07-16
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change in 2.5% low-contrast visual acuity measured with Sloan letter charts
Timeframe: Baseline and follow-up visits up to 3 years
2
Change in contrast sensitivity
Timeframe: Baseline and follow-up visits up to 3 years
3
Change in macular ganglion cell layer thickness measured by optical coherence tomography
Timeframe: Baseline and follow-up visits up to 3 years
4
Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography
Timeframe: Baseline and follow-up visits up to 3 years