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

This study has been completed.
Information provided by (Responsible Party):
University Hospital, Angers Identifier:
First received: October 3, 2011
Last updated: November 14, 2012
Last verified: November 2012
To determine the specific structural and functional features of the peripheral arteriopathy in the Pseudoxanthoma Elasticum (PXE), an inherited autosomal disease.

Pseudoxanthoma Elasticum

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Functional and Structural Characterization of the Peripheral Arteriopathy in Pseudoxanthoma Elasticum (PXE)

Resource links provided by NLM:

Further study details as provided by University Hospital, Angers:

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

Enrollment: 71
Study Start Date: May 2010
Study Completion Date: December 2011
Primary Completion Date: May 2011 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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
  Contacts and Locations
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Please refer to this study by its identifier: 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
  More Information

Responsible Party: University Hospital, Angers Identifier: NCT01446393     History of Changes
Other Study ID Numbers: CHU-Promoteur 2010-01 
Study First Received: October 3, 2011
Last Updated: November 14, 2012
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
France: Institutional Ethical Committee

Additional relevant MeSH terms:
Pseudoxanthoma Elasticum
Cardiovascular Diseases
Congenital Abnormalities
Connective Tissue Diseases
Genetic Diseases, Inborn
Hematologic Diseases
Hemorrhagic Disorders
Hemostatic Disorders
Skin Abnormalities
Skin Diseases
Skin Diseases, Genetic
Vascular Diseases processed this record on May 26, 2016