Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
NCT ID: NCT01446380
Last Updated: 2011-10-05
Study Results
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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UNKNOWN
350 participants
OBSERVATIONAL
2008-06-30
2021-01-31
Brief Summary
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Detailed Description
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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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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Pseudoxanthoma elasticum
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Informed consent obtained
* Patient affiliated to Health care system (french social security)
Exclusion Criteria
* No affiliation to a Health care system
ALL
No
Sponsors
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University Hospital, Angers
OTHER_GOV
Responsible Party
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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
Countries
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Central Contacts
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Facility Contacts
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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.
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.
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.
Other Identifiers
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AC 2008 871
Identifier Type: -
Identifier Source: org_study_id