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

NCT01446393 | Completed

• 1 other identifier: CHU-Promoteur 2010-01
• Study Type: observational
• Target: 71
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Pseudoxanthoma Elasticum

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (1)

Ludovic MARTIN

Angers, Pays de Loire, 49933, France

Location

Related Publications (3)

• Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x. Epub 2009 Jun 9.

  PMID: 19519828 BACKGROUND

• Martin L, Maitre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol. 2008 Mar;144(3):301-6. doi: 10.1001/archderm.144.3.301.

  PMID: 18347285 BACKGROUND

• Martin L, Hoppe E, Kauffenstein G, Omarjee L, Navasiolava N, Henni S, Willoteaux S, Leftheriotis G. Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum. Bone. 2017 Oct;103:88-92. doi: 10.1016/j.bone.2017.06.017. Epub 2017 Jun 27.

  PMID: 28658601 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for genetic and serum analysis

MeSH Terms

Conditions

Pseudoxanthoma Elasticum

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Study Officials

• Martin Ludovic, MD, PhD

  Department of Dermatology, University Hospital of Angers, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 3, 2011
• First Posted: October 5, 2011
• Study Start: May 1, 2010
• Primary Completion: May 1, 2011
• Study Completion: December 1, 2011
• Last Updated: November 15, 2012

Record last verified: 2012-11

Locations

FR (1)