Phenotypic Expressions in a French Pseudoxanthoma-Elastic... | NCT01446380

Studies
Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

NCT01446380

Sponsor

University Hospital, Angers

Status

Unknown status

Last Update Posted

Oct 5, 2011Estimated

Enrollment

350Estimated

Phase

Not provided

Conditions

Pseudoxanthoma Elasticum

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Oct 2009

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2008

Primary Completion Date

Jan 2020Estimated

Completion Date

Jan 2021Estimated

First Submitted Date

Feb 3, 2010

First Submission Date that Met QC Criteria

Oct 3, 2011

First Posted Date

Oct 5, 2011Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 3, 2011

Last Update Posted Date

Oct 5, 2011Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

350Estimated

Label	Type	Description	Intervention Names
Pseudoxanthoma elasticum

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

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).

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Ludovic MARTIN, MD PhD	Contact	33(2)41-35-34-19		LuMartin@chu-angers.fr
Georges LEFTHERIOTIS, MD-PHD	Contact	33(2)41-35-44-56		GeLeftheriotis@chu-angers.fr

Overall Officials

Name	Affiliation	Role
Ludovic MARTIN, MD PhD	UH Angers	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University Hospital of Angers	Recruiting	Angers	Pays de Loire	49933	France

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
19519828	Background	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.
18347285	Background	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.

ID	Term
D020141	Hemostatic Disorders
D014652	Vascular Diseases
D002318	Cardiovascular Diseases
D006474	Hemorrhagic Disorders