Tracking PXE-related changes at the back of the eye over time
Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)
University Hospital, Bonn · NCT07048106
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | University Hospital, Bonn (other) |
| Locations | 1 site (Bonn, North Rhine-Westphalia) |
| Trial ID | NCT07048106 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: Previous cross-sectional imaging work has reported Bruch's membrane and choriocapillaris abnormalities in PXE, but longitudinal and genotype-phenotype correlation data remain limited.
Eligibility criteria
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 this trial is running
Bonn, North Rhine-Westphalia
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Pseudoxanthoma Elasticum, Angioid Streaks, Peau d', Orange, Grönblad-Stranberg Disease, ABCC6, Pseudoxanthoma elasticum, PXE