Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

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

ACTIVE_NOT_RECRUITING

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-10-01

Study Completion Date

2025-10-31

Brief Summary

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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).

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Detailed Description

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Conditions

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Pseudoxanthoma Elasticum

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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No intervention

According to clinical practice.

Intervention Type OTHER

Eligibility Criteria

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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)

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No