Progression Assessment of PXE-associated Alterations

NCT07048106 | Recruiting

• 1 other identifier: UBonn
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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. 1.Direct Bruch's Membrane Alterations: Longitudinal analysis of BrM reflectivity using high-resolution OCT to assess correlations with disease progression
2. 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. 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. 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

Conditions

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

Keywords

ABCC6; Pseudoxanthoma elasticum; PXE; Angioid streaks; Peau d'orange; Grönblad-Strandberg Syndrome

Outcome Measures

Primary Outcomes (1)

• Eccentricity of 'Peau d'orange' over 2 years

  'Peau d'orange' will be measured in en-face imaging \[mm2\]

  2 years

Secondary Outcomes (3)

• Bruch's Membrane changes on High-Resolution Optical coherence tomography (OCT)

  2 years

• Choriocapillaris flow voids on Optical Coherence Tomography Angiography (OCT-A)

  2 years

• Angioid Streak Length on Fundus Photography and Infrared Reflectance Imaging

  2 years

Study Arms (2)

Pseudoxanthoma elasticum (PXE)

Genetically confirmed PXE patients

Controls

Healthy eyes of control participants

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

PXE patients will be recruited from the dedicated PXE clinic in Bonn, Germany and is open for any PXE patient (external clinics) that desire to participate. We will also present the study at the Annual meeting of the German PXE patient organization and with PXE international, the largest patient organization worldwide.

You may qualify if:

• 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)

You may not qualify if:

• Any confounding ocular disease not associated with PXE
• Systemic diseases hindering the study examinations

Sponsors & Collaborators

• University Hospital, Bonn: lead

Study Sites (1)

Department of Ophthalmology, University Hospital Bonn, Germany

Bonn, North Rhine-Westphalia, 53125, Germany

RECRUITING

MeSH Terms

Conditions

Pseudoxanthoma Elasticum; Angioid Streaks

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Retinal Diseases; Eye Diseases

Central Study Contacts

Kristina Pfau, MD, FEBO

CONTACT

+49 (0)228-287 15505; Kristina.Pfau@ukbonn.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 4, 2025
• First Posted: July 2, 2025
• Study Start: September 1, 2024
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): October 1, 2027
• Last Updated: July 2, 2025

Record last verified: 2025-06

Locations

DE (1)