Pseudoxanthoma ElasticumPROPXENCT05662085
Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
An observational study of Pseudoxanthoma Elasticum, run by University Hospital, Basel, Switzerland at 1 site in Switzerland.
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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pseudoxanthoma Elasticum
- How many people
- 25 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Oct 2022to 31 Oct 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The study will include subjects with PXE and PXE-mimicking ocular phenotypes.
Who may be able to join
- 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
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
University Hospital Basel
Basel, Canton of Basel-City, CH-4031
About this study
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
- Being tested
- No intervention
- Medical subject headings
- Pseudoxanthoma Elasticum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
According to clinical practice.
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: Two years from Baseline
Secondary outcomes (3)
Change in Bruch's membrane reflectivity
Measured: Two years from Baseline
Change in choriocapillaris loss
Measured: Two years from Baseline
Change in steady-state rod and cone sensitivity
Measured: Two years from Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Dec 2022
- Study start1 Oct 2022
- Primary completion31 Oct 2025 (estimated)
- Study completion31 Oct 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- More trials run by University Hospital, Basel, SwitzerlandThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Basel, Switzerland
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Kristina Pfau, MD, Study director, University Hospital, Basel, Switzerland
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05662085
- Sponsor's protocol ID
- PROPXE
- Acronym
- PROPXE
- Status last verified
- Apr 2025
- First submitted
- 14 Dec 2022
- Last updated
- 22 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 33090206Hess 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.
PubMed 31834130Pfau 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.
PubMed 38815804Pfau 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.
PubMed 39913163Giger 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.
PubMed 41230901
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
- ClinicalTrials.gov ID
- NCT05662085
- Acronym / sponsor ID
- PROPXE / PROPXE
- Conditions
- Pseudoxanthoma Elasticum
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- University Hospital, Basel, SwitzerlandUniversity, hospital or other
- Study start
- 1 Oct 2022 (actual)
- Primary completion
- 31 Oct 2025 (estimated)
- Study completion
- 31 Oct 2025 (estimated)
- First posted
- 22 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study will include subjects with PXE and PXE-mimicking ocular phenotypes.
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (5 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionAccording to clinical practice. | Other | – |
Primary outcome
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
3 secondary outcomes
Change in Bruch's membrane reflectivity
Time frame: Two years from Baseline
Change in choriocapillaris loss
Time frame: Two years from Baseline
Change in steady-state rod and cone sensitivity
Time frame: Two years from Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Apr 2025.
- Background: PubMed 33090206Hess 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.
- Background: PubMed 31834130Hess 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.
- Background: PubMed 38815804Pfau 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.
- Results publication: PubMed 39913163Pfau 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.
- Derived from this study: PubMed 41230901Giger 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kristina Pfau, MD study director
University Hospital, Basel, Switzerland
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudoxanthoma Elasticum, run by University Hospital, Basel, Switzerland at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 22 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome 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) (time frame: Two years from Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05662085, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Apr 2025.