Progression Assessment of PXE-associated Alterations
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: Pseudoxanthoma Elasticum, Angioid Streaks, Peau d'Orange, Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum). 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 →
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Official title
Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)
Overview
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.
Primary outcome measures
- Eccentricity of 'Peau d'orange' over 2 years [Time frame: 2 years]
Secondary outcome measures (3)
- Bruch's Membrane changes on High-Resolution Optical coherence tomography (OCT) [Time frame: 2 years]
- Choriocapillaris flow voids on Optical Coherence Tomography Angiography (OCT-A) [Time frame: 2 years]
- Angioid Streak Length on Fundus Photography and Infrared Reflectance Imaging [Time frame: 2 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Germany · 1 center
- Department of Ophthalmology, University Hospital Bonn, Germany — Bonn
Identifiers
NCT: NCT07048106 · UBonn