Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

NCT05662085 | Active Not Recruiting

• 1 other identifier: PROPXE
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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).

Conditions

Pseudoxanthoma Elasticum

Outcome Measures

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)

  Two years from Baseline

Secondary Outcomes (3)

• Change in Bruch's membrane reflectivity

  Two years from Baseline

• Change in choriocapillaris loss

  Two years from Baseline

• Change in steady-state rod and cone sensitivity

  Two years from Baseline

Interventions

No intervention OTHER

According to clinical practice.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study will include subjects with PXE and PXE-mimicking ocular phenotypes.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• University Hospital, Basel, Switzerland: lead

Study Sites (1)

University Hospital Basel

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

Location

Related Publications (5)

• Hess K, Gliem M, Charbel Issa P, Birtel J, Muller PL, von der Emde L, Herrmann P, Holz FG, Pfau M. Mesopic and Scotopic Light Sensitivity and Its Microstructural Correlates in Pseudoxanthoma Elasticum. JAMA Ophthalmol. 2020 Dec 1;138(12):1272-1279. doi: 10.1001/jamaophthalmol.2020.4335.

  PMID: 33090206 BACKGROUND

• Hess K, Gliem M, Birtel J, Muller P, Hendig D, Andrews C, Murray IJ, Holz FG, Charbel Issa P. IMPAIRED DARK ADAPTATION ASSOCIATED WITH A DISEASED BRUCH MEMBRANE IN PSEUDOXANTHOMA ELASTICUM. Retina. 2020 Oct;40(10):1988-1995. doi: 10.1097/IAE.0000000000002689.

  PMID: 31834130 BACKGROUND

• Pfau K, Lengyel I, Ossewaarde-van Norel J, van Leeuwen R, Risseeuw S, Leftheriotis G, Scholl HPN, Feltgen N, Holz FG, Pfau M. Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation. Prog Retin Eye Res. 2024 Sep;102:101274. doi: 10.1016/j.preteyeres.2024.101274. Epub 2024 May 28.

  PMID: 38815804 BACKGROUND

• Pfau K, Ansari G, Michels S, Dysli C, Liakopoulos S, Burghaus-Zhang J, Al-Sheikh M, Garweg JG, Quinodoz M, Kaminska K, Cancellieri F, Rivolta C, Terry SF, Feltgen N, Pfau M. Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1. Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):17. doi: 10.1167/iovs.66.2.17.

  PMID: 39913163 RESULT

• Giger JAW, Ansari G, Terry SF, Charbel Issa P, Pfau K, Pfau M; PROPXE Study Group. Measurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2. Invest Ophthalmol Vis Sci. 2025 Nov 3;66(14):29. doi: 10.1167/iovs.66.14.29.

  PMID: 41230901 DERIVED

MeSH Terms

Conditions

Pseudoxanthoma Elasticum

Condition Hierarchy (Ancestors)

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

Study Officials

• Kristina Pfau, MD

  University Hospital, Basel, Switzerland

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 14, 2022
• First Posted: December 22, 2022
• Study Start: October 1, 2022
• Primary Completion: October 31, 2025
• Study Completion: October 31, 2025
• Last Updated: April 22, 2025

Record last verified: 2025-04

Locations

CH (1)