PROPXE: Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
Study Details
Study Description
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).
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Outcome Measures
Primary Outcome Measures
- 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 Outcome Measures
- 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]
Eligibility Criteria
Criteria
Inclusion Criteria:
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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])
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Best-corrected visual acuity (BCVA): ≤1.0 LogMAR
Exclusion Criteria:
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Inability to give informed consent
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Claustrophobia
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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)
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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)
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Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University Hospital Basel | Basel | Basel-Stadt | Switzerland | CH-4031 |
Sponsors and Collaborators
- Institute of Molecular and Clinical Ophthalmology Basel
Investigators
- Study Director: Kristina Pfau, MD, University Hospital, Basel, Switzerland
Study Documents (Full-Text)
None provided.More Information
Publications
- 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.
- 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.
- PROPXE