Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

Pseudoxanthoma Elasticum Clinical Trial

— PROPXE  

Official title:

Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05662085
• Other study ID #: PROPXE
• Status: Recruiting
• Start date: October 1, 2022
• Est. completion date: October 31, 2025

Study information

• Verified date: December 2022
• Source: Institute of Molecular and Clinical Ophthalmology Basel
• Contact: Kristina Pfau, MD
• Phone: +41 79 357 36 93
• Email: Kristina.Pfau[@]usb.ch
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 40
• Est. completion date: October 31, 2025
• Est. primary completion date: October 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Pseudoxanthoma Elasticum
• Retinal Degeneration

Intervention

Other:
• No intervention
According to clinical practice.

Locations

Country	Name	City	State
Switzerland	University Hospital Basel	Basel	Basel-Stadt

Sponsors (1)

Lead Sponsor	Collaborator
Institute of Molecular and Clinical Ophthalmology Basel

Country where clinical trial is conducted

Switzerland, 

References & Publications (2)

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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in the rate of rod-mediated dark-adaptation at the leading disease front (i.e., change in the S2 slope per year)		Two years from Baseline
Secondary	Change in Bruch's membrane reflectivity		Two years from Baseline
Secondary	Change in choriocapillaris loss		Two years from Baseline
Secondary	Change in steady-state rod and cone sensitivity		Two years from Baseline