Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE) (Ca-Art-PXE)

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: NCT01446393
Recruitment Status : Completed
First Posted : October 5, 2011
Last Update Posted : November 15, 2012
Information provided by (Responsible Party):
University Hospital, Angers

Brief Summary:
To determine the specific structural and functional features of the peripheral arteriopathy in the Pseudoxanthoma Elasticum (PXE), an inherited autosomal disease.

Condition or disease
Pseudoxanthoma Elasticum

Detailed Description:
The primary objective of this study is to characterize the structural and functional characteristics of the peripheral arteries (lower and upper limbs) . a secondary objective will be to determine the arterial calcification using CT-scan as a useful tools for the diagnosis and the follow-up of this disease. Data will be collected from a cohort of patients PXE monitored in our Health and Research PXE center at the University Hospital of Angers. The structural and functional variables of the distal arteries (radial and tibialis arteries) will be studied using high-resolution echography. Scoring of the arterial calcium load will be determined by helicoidal CT-scan in the lower limb arteries. These variables will be compared to matched (gender and age) controls without PXE.

Study Type : Observational
Actual Enrollment : 71 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Functional and Structural Characterization of the Peripheral Arteriopathy in Pseudoxanthoma Elasticum (PXE)
Study Start Date : May 2010
Actual Primary Completion Date : May 2011
Actual Study Completion Date : December 2011

Resource links provided by the National Library of Medicine

Biospecimen Retention:   Samples With DNA
Blood samples for genetic and serum analysis

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with phenotypically and genetically (ABCC6) proved PXE and Control patients paired for age (+/- 5 yeas) and gender.

Inclusion Criteria:

  • Patients with phenotypically and genetically (ABCC6) proved PXE or control patients paired for age and gender
  • Written formed consent obtained
  • Patient affiliated to a Health care system

Exclusion Criteria:

  • Patient with unproved PXE
  • Pregnant woman
  • Patient unwilling to participate to the study
  • Not affiliated to a Health care System

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): NCT01446393

Ludovic MARTIN
Angers, Pays de Loire, France, 49933
Sponsors and Collaborators
University Hospital, Angers
Principal Investigator: Martin Ludovic, MD, PhD Department of Dermatology, University Hospital of Angers, France

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: University Hospital, Angers Identifier: NCT01446393     History of Changes
Other Study ID Numbers: CHU-Promoteur 2010-01
First Posted: October 5, 2011    Key Record Dates
Last Update Posted: November 15, 2012
Last Verified: November 2012

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