Progression Assessment of PXE-associated Alterations

Launched by UNIVERSITY HOSPITAL, BONN · Jun 24, 2025

Keywords

ClinConnect Summary

This clinical study is looking at how a rare condition called Pseudoxanthoma Elasticum (PXE) affects the eye over time. PXE can cause changes in a part of the eye called Bruch’s membrane, which plays an important role in eye health. The researchers want to understand how these changes happen, how they affect blood flow in the eye, and how the retina (the light-sensitive layer at the back of the eye) may slowly get damaged. They will also study how different genetic changes in PXE patients relate to these eye changes. The goal is to learn more about the disease to help improve future treatments and advice for patients.

People diagnosed with PXE who have clear eyes and can safely sit still for eye scans might be able to join the study. Participants will have non-invasive eye scans and a blood sample taken, and the study will follow them for up to 10 years to see how the eye changes over time. While there may not be a direct benefit to those joining, the information gathered could help doctors better understand PXE and develop better care plans in the future. The study is currently recruiting participants and welcomes adults of all genders who meet the criteria.

Gender

ALL

Eligibility 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