Clinical trial NCT01446393: Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE)
Official title: Functional and Structural Characterization of the Peripheral Arteriopathy in Pseudoxanthoma Elasticum (PXE)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pseudoxanthoma Elasticum
Lead sponsor: University Hospital, Angers
Sponsor class: OTHER_GOV
First posted: 2011-10-05
Enrollment: 71
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
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.

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

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.

Eligibility criteria: 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Angers
country: France
facility: Ludovic MARTIN
state: Pays de Loire
Study officials:
affiliation: Department of Dermatology, University Hospital of Angers, France
name: Martin Ludovic, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.