Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

NCT ID: NCT01446380

Last Updated: 2011-10-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

350 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-06-30

Study Completion Date

2021-01-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Pseudoxanthoma Elasticum

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Pseudoxanthoma elasticum

No interventions assigned to this group

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Angers

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Ludovic MARTIN, MD PhD

Role: STUDY_DIRECTOR

UH Angers

Locations

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University Hospital of Angers

Angers, Pays de Loire, France

Site Status RECRUITING

Countries

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France

Central Contacts

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Ludovic MARTIN, MD PhD

Role: CONTACT

33(2)41-35-34-19

Georges LEFTHERIOTIS, MD-PHD

Role: CONTACT

33(2)41-35-44-56

Facility Contacts

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Ludovic MARTIN, MD-PhD

Role: primary

33(0)2-41-35-34-19

Georges LEFTHERIOTIS, MD-PhD

Role: backup

33(0)2-41-35-44-56

References

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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.

Reference Type BACKGROUND
PMID: 19519828 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 18347285 (View on PubMed)

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.

Reference Type DERIVED
PMID: 24651258 (View on PubMed)

Other Identifiers

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AC 2008 871

Identifier Type: -

Identifier Source: org_study_id