MedTrace Logo

Progression Assessment of PXE-associated Alterations

NCT07048106 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2025-07-02

No results posted yet for this study

Summary

This monocentric clinical observational study at the University Eye Hospital Bonn investigates the natural history and structural consequences of a diseased Bruch's membrane (BrM) in Pseudoxanthoma elasticum (PXE). The study includes four main objectives:

1. Direct Bruch's Membrane Alterations: Longitudinal analysis of BrM reflectivity using high-resolution OCT to assess correlations with disease progression
2. Choriocapillaris Flow Deficits: Evaluation of choriocapillaris (CC) perfusion in relation to BrM calcification, aiming to clarify whether CC deficits precede or result from BrM changes
3. Retinal Atrophy Progression: Monitoring the development and expansion of retinal atrophic areas over two years, including correlations with specific features like reticular pseudodrusen and hyperreflective spots
4. Genotype-Phenotype Correlation: Analysis of different ABCC6 gene mutations to identify correlations with imaging features and disease severity, potentially guiding future personalized therapeutic strategies

The study will recruit 100 PXE patients and 100 controls, with data collection over 10 years. It involves non-invasive imaging and blood sampling. No direct benefit is expected for participants, but the findings may inform future clinical trials and improve patient counseling.

Conditions

  • Pseudoxanthoma Elasticum
  • Angioid Streaks
  • Peau d'Orange
  • Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)

Sponsors & Collaborators

  • University Hospital, Bonn

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-09-01
Primary Completion
2027-10-31
Completion
2027-10-31

Countries

  • Germany

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07048106 on ClinicalTrials.gov