Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
View:

• 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)

Locations
Other Locations
Germany
Department of Ophthalmology, University Hospital Bonn, Germany
RECRUITING
Bonn
Contact Information
Primary
Kristina Pfau, MD, FEBO
Kristina.Pfau@ukbonn.de
+49 (0)228-287 15505
Time Frame
Start Date: 2024-09-01
Estimated Completion Date: 2027-10
Participants
Target number of participants: 100
Treatments
Pseudoxanthoma elasticum (PXE)
Genetically confirmed PXE patients
Controls
Healthy eyes of control participants
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Bonn

This content was sourced from clinicaltrials.gov

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