NCT01446380

Brief Summary

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

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
350

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jun 2008

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2008

Completed
1.7 years until next milestone

First Submitted

Initial submission to the registry

February 3, 2010

Completed
1.7 years until next milestone

First Posted

Study publicly available on registry

October 5, 2011

Completed
8.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2020

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2021

Completed
Last Updated

October 5, 2011

Status Verified

October 1, 2009

Enrollment Period

11.6 years

First QC Date

February 3, 2010

Last Update Submit

October 3, 2011

Conditions

Pseudoxanthoma Elasticum

Study Arms (1)

Pseudoxanthoma elasticum

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients diagnosed for a PXE disease from any part of France and requesting a follow-up and clinical management of there disease (opthalmic and vascular complications mainly).

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Hospital of Angers

Angers, Pays de Loire, 49933, France

RECRUITING

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: 19519828BACKGROUND

  • 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: 18347285BACKGROUND

  • Biere L, Donal E, Terrien G, Furber A, Martin L, Prunier F. Left ventricular function in a large cohort of pseudoxanthoma elasticum patients. PLoS One. 2014 Mar 20;9(3):e90364. doi: 10.1371/journal.pone.0090364. eCollection 2014.

    PMID: 24651258DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Sera,Plasma,DNA,skin biopsy

MeSH Terms

Conditions

Pseudoxanthoma Elasticum

Condition Hierarchy (Ancestors)

Hemostatic DisordersVascular DiseasesCardiovascular DiseasesHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesSkin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin Diseases

Study Officials

  • Ludovic MARTIN, MD PhD

    UH Angers

    STUDY DIRECTOR

Central Study Contacts

Ludovic MARTIN, MD PhD

CONTACT

33(2)41-35-34-19LuMartin@chu-angers.fr

Georges LEFTHERIOTIS, MD-PHD

CONTACT

33(2)41-35-44-56GeLeftheriotis@chu-angers.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 3, 2010

First Posted

October 5, 2011

Study Start

June 1, 2008

Primary Completion

January 1, 2020

Study Completion

January 1, 2021

Last Updated

October 5, 2011

Record last verified: 2009-10

Locations

FR(1)