Characterization of Pseudoxanthoma Elasticum

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02108392
Recruitment Status : Active, not recruiting
First Posted : April 9, 2014
Last Update Posted : June 20, 2018
Information provided by (Responsible Party):
Peter Charbel Issa, University Hospital, Bonn

Brief Summary:
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..

Condition or disease
Pseudoxanthoma Elasticum

Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Characterization of Patients With Pseudoxanthoma Elasticum
Study Start Date : January 2014
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. Biomarkers in PXE [ Time Frame: 1 day (first visit) ]
    Potential systemic biomarkers are investigated by collecting blood samples of PXE patients

Biospecimen Retention:   Samples With DNA
whole blood samples

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Pseudoxanthoma elasticum

Inclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02108392

Department of Ophthalmology, University of Bonn
Bonn, NRW, Germany, 53127
Sponsors and Collaborators
University Hospital, Bonn
Principal Investigator: Peter Charbel Issa, MD Department of Ophthalmology, University of Bonn

Additional Information:

Responsible Party: Peter Charbel Issa, MD, University Hospital, Bonn Identifier: NCT02108392     History of Changes
Other Study ID Numbers: pending
First Posted: April 9, 2014    Key Record Dates
Last Update Posted: June 20, 2018
Last Verified: June 2018

Keywords provided by Peter Charbel Issa, University Hospital, Bonn:

Additional relevant MeSH terms:
Pseudoxanthoma Elasticum
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Connective Tissue Diseases
Skin Diseases