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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

71 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-05-31

Study Completion Date

2011-12-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Pseudoxanthoma Elasticum

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Martin Ludovic, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Department of Dermatology, University Hospital of Angers, France

Locations

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Ludovic MARTIN

Angers, Pays de Loire, France

Site Status

Countries

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France

References

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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.

Reference Type BACKGROUND

PMID: 19519828 (View on PubMed)

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.

Reference Type BACKGROUND

PMID: 18347285 (View on PubMed)

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.

Reference Type DERIVED

PMID: 28658601 (View on PubMed)

Other Identifiers

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CHU-Promoteur 2010-01

Identifier Type: -

Identifier Source: org_study_id