NCT07729982 A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
| NCT ID | NCT07729982 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Ludwig-Maximilians - University of Munich |
| Condition | OPA1 Gene Mutation |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2026-07-16 |
| Primary Completion | 2030-10 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2026-07-16 with a primary completion date of 2030-10.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility Criteria
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
Contact & Investigator
Maximilian-Joachim Gerhardt, Dr. med.
PRINCIPAL INVESTIGATOR
Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München
Frequently Asked Questions
Who can join the NCT07729982 clinical trial?
This trial is open to participants of all sexes, studying OPA1 Gene Mutation. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07729982 currently recruiting?
Yes, NCT07729982 is actively recruiting participants. Contact the research team at sarah.marxsen@med.uni-muenchen.de for enrollment information.
Where is the NCT07729982 trial being conducted?
This trial is being conducted at Munich, Germany.
Who is sponsoring the NCT07729982 clinical trial?
NCT07729982 is sponsored by Ludwig-Maximilians - University of Munich. The principal investigator is Maximilian-Joachim Gerhardt, Dr. med. at Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München. The trial plans to enroll 50 participants.