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OpenTrials
Active, Not Recruiting

NCT Number: NCT05662085

Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

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).

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Basel

Basel, Canton of Basel-City, CH-4031, Switzerland

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

No intervention

Other

According to clinical practice.

Primary outcomes

  1. 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)

    Time frame: Two years from Baseline

Secondary outcomes

  1. Change in Bruch's membrane reflectivity

    Time frame: Two years from Baseline

  2. Change in choriocapillaris loss

    Time frame: Two years from Baseline

  3. Change in steady-state rod and cone sensitivity

    Time frame: Two years from Baseline

Sponsors and collaborators

Lead sponsor

University Hospital, Basel, Switzerland

Other

Registry information

Acronym: PROPXE

Important dates

Study start
2022
Primary completion
2025
Study completion
2025
First posted
Dec 22, 2022
Registry last updated
Apr 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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