Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

Active, not recruiting

• Conditions: Pseudoxanthoma Elasticum

• Registration Number: NCT05662085
• Lead Sponsor: University Hospital, Basel, Switzerland

Brief Summary

This study aims to systematically assess the retest reliability and ability to detect a change of new visual function tests and ophthalmological imaging methods for observing the natural course of pseudoxanthoma elasticum (PXE).

Detailed Description

Not available

Study Timeline

• Study Start: 2022-10-01
• Study First Submitted: 2022-12-14
• Study First Submitted QC: 2022-12-14
• Study First Posted: 2022-12-22
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-17
• Last Update Posted: 2025-04-22
• Primary Completion: 2025-10-31
• Study Completion: 2025-10-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 25

Inclusion Criteria

• Adult patients with Pseudoxanthoma elasticum according to the Plomp criteria or adult patients with a PXE-mimicking phenotype (angioid streaks and peau d'orange [e.g., ENPP1 or GGCX-associated disease])
• Best-corrected visual acuity (BCVA): ≤1.0 LogMAR

Exclusion Criteria

• Inability to give informed consent
• Claustrophobia
• Prior surgery (other than anti-VEGF injections, cataract surgery, YAG laser capsulotomy, or laser retinopexy) that - according to the investigator's judgment - may affect visual function assessments (e.g., retinal detachment surgery, glaucoma filtration surgery, or a history of a corneal transplant in the study-eye)
• Concurrent ophthalmic conditions in the study eye that (according to the investigator's judgment) may contribute to loss of vision, such as clinically significant opacification of the ocular media (corneal dystrophies, cataract), other retinal diseases, or disease of the optic nerve head and visual pathway (including amblyopia)
• Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in the rate of rod-mediated dark-adaptation at the leading disease front (i.e., change in the rod-intercept time [RIT in min] per year)	Two years from Baseline

Secondary Outcome Measures

Name	Time	Method
Change in Bruch's membrane reflectivity	Two years from Baseline
Change in steady-state rod and cone sensitivity	Two years from Baseline
Change in choriocapillaris loss	Two years from Baseline

Trial Locations

Locations (1)

University Hospital Basel; 🇨🇭 Basel, Basel-Stadt, Switzerland