Progression Assessment of PXE-associated Alterations

NCT ID: NCT07048106

Last Updated: 2025-07-02

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-09-01

Study Completion Date

2027-10-31

Brief Summary

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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.

Detailed Description

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Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Pseudoxanthoma elasticum (PXE)

Genetically confirmed PXE patients

No interventions assigned to this group

Controls

Healthy eyes of control participants

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital, Bonn

OTHER

Sponsor Role lead

Responsible Party

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Kristina Pfau

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Department of Ophthalmology, University Hospital Bonn, Germany

Bonn, North Rhine-Westphalia, Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Kristina Pfau, MD, FEBO

Role: CONTACT

+49 (0)228-287 15505

Facility Contacts

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Kristina Pfau

Role: primary

+49 (0)228 287-15505

Jonathan Meinke, MD

Role: backup

Other Identifiers

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UBonn

Identifier Type: -

Identifier Source: org_study_id

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