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Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

This study is currently recruiting participants.
See Contacts and Locations
Verified October 2009 by University Hospital, Angers
Information provided by (Responsible Party):
University Hospital, Angers Identifier:
First received: February 3, 2010
Last updated: October 3, 2011
Last verified: October 2009
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).

Pseudoxanthoma Elasticum

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

Resource links provided by NLM:

Further study details as provided by University Hospital, Angers:

Biospecimen Retention:   Samples With DNA
Sera,Plasma,DNA,skin biopsy

Estimated Enrollment: 350
Study Start Date: June 2008
Estimated Study Completion Date: January 2021
Estimated Primary Completion Date: January 2020 (Final data collection date for primary outcome measure)
Pseudoxanthoma elasticum

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-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).

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01446380

Contact: Ludovic MARTIN, MD PhD 33(2)41-35-34-19
Contact: Georges LEFTHERIOTIS, MD-PHD 33(2)41-35-44-56

University Hospital of Angers Recruiting
Angers, Pays de Loire, France, 49933
Contact: Ludovic MARTIN, MD-PhD    33(0)2-41-35-34-19   
Contact: Georges LEFTHERIOTIS, MD-PhD    33(0)2-41-35-44-56   
Sub-Investigator: Georges LEFTHERIOTIS, MD-PHD         
Sub-Investigator: Pierre ABRAHAM, MD-PHD         
Sub-Investigator: Fabrice PRUNIER, MD-PHD         
Sub-Investigator: Jean Marc EBRAN, MD         
Sponsors and Collaborators
University Hospital, Angers
Study Director: Ludovic MARTIN, MD PhD UH Angers
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: University Hospital, Angers Identifier: NCT01446380     History of Changes
Other Study ID Numbers: AC 2008 871
Study First Received: February 3, 2010
Last Updated: October 3, 2011

Additional relevant MeSH terms:
Pseudoxanthoma Elasticum
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Connective Tissue Diseases
Skin Diseases processed this record on September 18, 2017