A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Germany
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy
Overview
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.
Primary outcome measures
- Change in 2.5% low-contrast visual acuity measured with Sloan letter charts [Time frame: Baseline and follow-up visits up to 3 years]
- Change in contrast sensitivity [Time frame: Baseline and follow-up visits up to 3 years]
- Change in macular ganglion cell layer thickness measured by optical coherence tomography [Time frame: Baseline and follow-up visits up to 3 years]
- Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography [Time frame: Baseline and follow-up visits up to 3 years]
Secondary outcome measures (4)
- Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging [Time frame: Baseline and follow-up visits up to 3 years]
- Change in central visual field sensitivity measured by Humphrey 10-2 automated perimetry [Time frame: Baseline and follow-up visits up to 3 years]
- Change in protan and tritan colour contrast thresholds measured by the Arden Colour Contrast Test [Time frame: Baseline and follow-up visits up to 3 years]
- Change in best-corrected visual acuity (BCVA) measured with high-contrast visual acuity testing [Time frame: Baseline and follow-up visits up to 3 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Germany · 1 center
- Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Univ — Munich
Identifiers
NCT: NCT07729982 · 25-0268