Clinical trial NCT05662085: Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
Official title: Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Pseudoxanthoma Elasticum
Lead sponsor: University Hospital, Basel, Switzerland
Sponsor class: OTHER
First posted: 2022-12-22
Enrollment: 25
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study will include subjects with PXE and PXE-mimicking ocular phenotypes.

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).


Eligibility criteria: 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)

Primary outcomes:
measure: 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
Secondary outcomes:
measure: Change in Bruch's membrane reflectivity
timeFrame: Two years from Baseline
measure: Change in choriocapillaris loss
timeFrame: Two years from Baseline
measure: Change in steady-state rod and cone sensitivity
timeFrame: Two years from Baseline
Other outcomes:
Locations:
city: Basel
country: Switzerland
facility: University Hospital Basel
state: Basel-Stadt
Study officials:
affiliation: University Hospital, Basel, Switzerland
name: Kristina Pfau, MD
role: STUDY_DIRECTOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.