Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

Overview

The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: January 2020

Detailed Description

This national french cohort is intended to improve our knowledge on the PXE disease. The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. All investigations are included in a yearly follow-up for these patients and collected in a database. Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic (DNA) material extracted from diagnostic skin biopsy. French Ministry of Teaching and Research Authorisation number for the PXE collection is AC 2008 871. Declarative number is DC 2008 870.

Arms, Groups and Cohorts

  • Pseudoxanthoma elasticum

Participating in This Clinical Trial

Inclusion Criteria

  • Patients with PXE disease – Informed consent obtained – Patient affiliated to Health care system (french social security) Exclusion Criteria:

  • No informed consent – No affiliation to a Health care system

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Angers
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Ludovic MARTIN, MD PhD, Study Director, UH Angers
  • Overall Contact(s)
    • Ludovic MARTIN, MD PhD, 33(2)41-35-34-19, LuMartin@chu-angers.fr

References

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.

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.

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