Tracking PXE-related changes at the back of the eye over time
Official title: Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)
Run by University Hospital, Bonn · NCT07048106 · Data updated 2026-11-12
This study will see if repeated high-resolution eye imaging can track changes in Bruch's membrane, choriocapillaris blood flow, and retinal atrophy in people with PXE.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | University Hospital, Bonn Academic / other |
| Locations | 1 site (Bonn, North Rhine-Westphalia) |
| Status | Recruiting |
| Started | September 1, 2024 |
| Main results expected | October 2027 |
| Study ends | October 2027 |
| Registry record updated | July 2, 2025 |
| Trial ID | NCT07048106 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are people diagnosed with PXE by accepted criteria who have clear ocular media and can complete repeated head-still imaging sessions.
✕Probably not a fit
Patients with other unrelated ocular diseases, systemic conditions that prevent the examinations, or who cannot tolerate repeat imaging are unlikely to benefit from the study findings.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This monocentric observational study at the University Eye Hospital Bonn follows people with PXE with repeated high-resolution optical coherence tomography and perfusion imaging. Investigators will quantify Bruch's membrane reflectivity, measure choriocapillaris flow deficits, and monitor the development and expansion of retinal atrophy over two years. Imaging features will be correlated with ABCC6 gene variants to explore genotype-phenotype relationships. The goal is to clarify the sequence of structural and perfusion changes and to identify imaging markers of progression.
Why it matters
Potential benefit: If successful, the study could identify imaging markers that help predict vision loss and guide monitoring or future personalized treatments for people with PXE.
How similar studies have gone: Previous cross-sectional imaging work has reported Bruch's membrane and choriocapillaris abnormalities in PXE, but longitudinal and genotype-phenotype correlation data remain limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria for PXE cohort: * PXE based on the criteria of Plomp et al. * Clear ocular media * Ability to perform the tasks of the study protocol (i.e., holding the head still for image aquisition) Exclusion Criteria: * Any confounding ocular disease not associated with PXE * Systemic diseases hindering the study examinations
Where it's running
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Department of Ophthalmology, University Hospital Bonn, Germany
Bonn, North Rhine-Westphalia, Germany Recruiting
Study contacts
- Study coordinator: Kristina Pfau, MD, FEBO
- Email: Kristina.Pfau@ukbonn.de
- Phone: +49 (0)228-287 15505
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.