Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

Pseudoxanthoma Elasticum Clinical Trial

Official title:

Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01446380
• Other study ID #: AC 2008 871
• Status: Recruiting
• Phase: N/A
• First received: February 3, 2010
• Last updated: October 3, 2011
• Start date: June 2008
• Est. completion date: January 2021

Study information

• Verified date: October 2009
• Source: University Hospital, Angers
• Contact: Ludovic MARTIN, MD PhD
• Phone: 33(2)41-35-34-19
• Email: LuMartin[@]chu-angers.fr
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 350
• Est. completion date: January 2021
• Est. primary completion date: January 2020
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Pseudoxanthoma Elasticum

Locations

Country	Name	City	State
France	University Hospital of Angers	Angers	Pays de Loire

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Angers

Country where clinical trial is conducted

France, 

References & Publications (2)

Martin L, Maître 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. — View 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. — View Citation