Active — Not RecruitingNot Applicable

Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

Switzerland25 participantsStarted 2022-10-01

Plain-language 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).

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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)

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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)

Timeframe: Two years from Baseline

Trial details

NCT IDNCT05662085

SponsorUniversity Hospital, Basel, Switzerland

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-10-31

View on ClinicalTrials.gov More Pseudoxanthoma Elasticum trials

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.