Characterization of Pseudoxanthoma Elasticum

June 18, 2018 updated by: Peter Charbel Issa, University Hospital, Bonn

Characterization of Patients With Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder of autosomal recessive inheritance (OMIM# 264800) and an estimated prevalence between 1:25.000 and 1:100.000. PXE is characterized by calcification and fragmentation of connective tissue rich in elastic fibers. Due to its high content of elastic fibers, Bruch Membrane in eyes of patients affected by PXE becomes thickened and calcified. The ocular phenotype is characterized by angioid streaks and peau d'orange but also choroidal neovascularizations and chorioretinal atrophy thereby in part mimicking the phenotype of age-related macular degeneration. The disease is due to mutations of the ABCC6-gene coding for a transmembrane protein which is mainly expressed in the liver and kidney. It is hypothesized that ABCC6 is involved in the excretion of a yet unknown factor from the liver which inhibits systemic calcification. In animal models several candidates for this factor have been identified but direct evidence for such a factor in patients with PXE is still missing. The primary purpose of this study is to further investigate the ocular phenotype of patients with PXE using multimodal imaging and functional testing to delineate the impact of Bruch membrane pathology on the eye. Furthermore, possible systemic anti-calcification factors, as well as associations with the vascular alterations are investigated to gain more insights into the pathogenesis of PXE..

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
    • NRW
      • Bonn, NRW, Germany, 53127
        • Department of Ophthalmology, University of Bonn

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Pseudoxanthoma elasticum

Description

Inclusion Criteria:

  • Diagnosis of Pseudoxanthoma elastcium based on histopathologic and/or genetic testing

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Ocular phenotype
Time Frame: patients will be followed longitudinally with an expected 1-year average interval between visits
Patients are investigated using a multimodal imaging approach and visual function testing.
patients will be followed longitudinally with an expected 1-year average interval between visits

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Biomarkers in PXE
Time Frame: 1 day (first visit)
Potential systemic biomarkers are investigated by collecting blood samples of PXE patients
1 day (first visit)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bonn

Investigators

  • Principal Investigator: Peter Charbel Issa, MD, Department of Ophthalmology, University of Bonn

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2014

Primary Completion (Anticipated)

December 1, 2018

Study Completion (Anticipated)

December 1, 2018

Study Registration Dates

First Submitted

April 1, 2014

First Submitted That Met QC Criteria

April 8, 2014

First Posted (Estimate)

April 9, 2014

Study Record Updates

Last Update Posted (Actual)

June 20, 2018

Last Update Submitted That Met QC Criteria

June 18, 2018

Last Verified

June 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Pending (Other Identifier: Pending)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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