Pseudoxanthoma ElasticumPAPANCT07048106
Progression Assessment of PXE-associated Alterations
An observational study of Pseudoxanthoma Elasticum and Angioid Streaks, run by University Hospital, Bonn at 1 site in Germany.
Trial summary
This monocentric clinical observational study at the University Eye Hospital Bonn investigates the natural history and structural consequences of a diseased Bruch's membrane (BrM) in Pseudoxanthoma elasticum (PXE). The study includes four main objectives: 1. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Pseudoxanthoma Elasticum, Angioid Streaks, Peau d'Orange
- How many people
- 100 participants
- Where
- 1 siteGermany
- Study dates
- 1 Sep 2024to Oct 2027
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: PXE patients will be recruited from the dedicated PXE clinic in Bonn, Germany and is open for any PXE patient (external clinics) that desire to participate. We will also present the study at the Annual meeting of the German PXE patient organization and with PXE international, the largest patient organization worldwide.
Who may be able to join
- PXE based on the criteria of Plomp et al.
- Clear ocular media
- Ability to perform the tasks of the study protocol (i.e., holding the head still for image aquisition)
Who cannot join
- Any confounding ocular disease not associated with PXE
- Systemic diseases hindering the study examinations
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
Department of Ophthalmology, University Hospital Bonn, Germany
Bonn, North Rhine-Westphalia, 53125
Kristina Pfau, +49 (0)228 287-15505, Kristina.Pfau@ukbonn.de
Jonathan Meinke, MD, Jonathan.Meinke@ukbonn.de
About this study
Official title: Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)
This monocentric clinical observational study at the University Eye Hospital Bonn investigates the natural history and structural consequences of a diseased Bruch's membrane (BrM) in Pseudoxanthoma elasticum (PXE). The study includes four main objectives:
- Direct Bruch's Membrane Alterations: Longitudinal analysis of BrM reflectivity using high-resolution OCT to assess correlations with disease progression
- Choriocapillaris Flow Deficits: Evaluation of choriocapillaris (CC) perfusion in relation to BrM calcification, aiming to clarify whether CC deficits precede or result from BrM changes
- Retinal Atrophy Progression: Monitoring the development and expansion of retinal atrophic areas over two years, including correlations with specific features like reticular pseudodrusen and hyperreflective spots
- Genotype-Phenotype Correlation: Analysis of different ABCC6 gene mutations to identify correlations with imaging features and disease severity, potentially guiding future personalized therapeutic strategies
The study will recruit 100 PXE patients and 100 controls, with data collection over 10 years. It involves non-invasive imaging and blood sampling. No direct benefit is expected for participants, but the findings may inform future clinical trials and improve patient counseling.
- Conditions
- Pseudoxanthoma Elasticum, Angioid Streaks, Peau d'Orange, Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
- Keywords
- ABCC6, Pseudoxanthoma elasticum, PXE, Angioid streaks, Peau d'orange, Grönblad-Strandberg Syndrome
- Medical subject headings
- Pseudoxanthoma Elasticum, Angioid Streaks
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pseudoxanthoma elasticum (PXE) | Genetically confirmed PXE patients | |
| Controls | Healthy eyes of control participants |
What is being measured
The primary outcome is the main question the study is designed to answer.
Eccentricity of 'Peau d'orange' over 2 years
'Peau d'orange' will be measured in en-face imaging [mm2]
Measured: 2 years
Secondary outcomes (3)
Bruch's Membrane changes on High-Resolution Optical coherence tomography (OCT)
Bruch's membrane will be qualitatively graded on High resolution OCT (integrity, breaks, ...)
Measured: 2 years
Choriocapillaris flow voids on Optical Coherence Tomography Angiography (OCT-A)
Choriocapillaris degeneration will be evaluated on OCT-Angiography, i.e. percent (%) of flow voids, progression over 2 years
Measured: 2 years
Angioid Streak Length on Fundus Photography and Infrared Reflectance Imaging
Angioid Streaks will be measured manually with the unit [mm]
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jul 2025
- Study start1 Sep 2024
- Primary completionOct 2027 (estimated)
- Study completionOct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- 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
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bonn
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Kristina Pfau, University Hospital, Bonn
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07048106
- Sponsor's protocol ID
- UBonn
- Acronym
- PAPA
- Status last verified
- Jun 2025
- First submitted
- 4 Jun 2025
- Last updated
- 2 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)
- ClinicalTrials.gov ID
- NCT07048106
- Acronym / sponsor ID
- PAPA / UBonn
- Conditions
- Pseudoxanthoma Elasticum, Angioid Streaks, Peau d'Orange, Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
- Keywords
- ABCC6, Pseudoxanthoma elasticum, PXE, Angioid streaks, Peau d'orange, Grönblad-Strandberg Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, BonnUniversity, hospital or other
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- Oct 2027 (estimated)
- Study completion
- Oct 2027 (estimated)
- First posted
- 2 Jul 2025 (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 monocentric clinical observational study at the University Eye Hospital Bonn investigates the natural history and structural consequences of a diseased Bruch's membrane (BrM) in Pseudoxanthoma elasticum (PXE). The study includes four main objectives:
- Direct Bruch's Membrane Alterations: Longitudinal analysis of BrM reflectivity using high-resolution OCT to assess correlations with disease progression
- Choriocapillaris Flow Deficits: Evaluation of choriocapillaris (CC) perfusion in relation to BrM calcification, aiming to clarify whether CC deficits precede or result from BrM changes
- Retinal Atrophy Progression: Monitoring the development and expansion of retinal atrophic areas over two years, including correlations with specific features like reticular pseudodrusen and hyperreflective spots
- Genotype-Phenotype Correlation: Analysis of different ABCC6 gene mutations to identify correlations with imaging features and disease severity, potentially guiding future personalized therapeutic strategies
The study will recruit 100 PXE patients and 100 controls, with data collection over 10 years. It involves non-invasive imaging and blood sampling. No direct benefit is expected for participants, but the findings may inform future clinical trials and improve patient counseling.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Pseudoxanthoma elasticum (PXE) | – | –Genetically confirmed PXE patients |
| Controls | – | –Healthy eyes of control participants |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- PXE patients will be recruited from the dedicated PXE clinic in Bonn, Germany and is open for any PXE patient (external clinics) that desire to participate. We will also present the study at the Annual meeting of the German PXE patient organization and with PXE international, the largest patient organization worldwide.
Key inclusion criteria (3 listed)
- PXE based on the criteria of Plomp et al.
- Clear ocular media
- Ability to perform the tasks of the study protocol (i.e., holding the head still for image aquisition)
Key exclusion criteria (2 listed)
- Any confounding ocular disease not associated with PXE
- Systemic diseases hindering the study examinations
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Eccentricity of 'Peau d'orange' over 2 years
Time frame: 2 years
'Peau d'orange' will be measured in en-face imaging [mm2]
3 secondary outcomes
Bruch's Membrane changes on High-Resolution Optical coherence tomography (OCT)
Time frame: 2 years
Choriocapillaris flow voids on Optical Coherence Tomography Angiography (OCT-A)
Time frame: 2 years
Angioid Streak Length on Fundus Photography and Infrared Reflectance Imaging
Time frame: 2 years
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 2 Jul 2025.
- 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.
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 and Angioid Streaks, run by University Hospital, Bonn at 1 site in Germany.
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 3 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 2 Jul 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 Germany. 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?
Contact Kristina Pfau, MD, FEBO (+49 (0)228-287 15505, Kristina.Pfau@ukbonn.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Eccentricity of 'Peau d'orange' over 2 years (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 2 Jul 2025; AzTrials last refreshed its copy on 6 Nov 2026.