Try the modernized ClinicalTrials.gov beta website. Learn more about the modernization effort.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Biomarkers in Vascular Ehlers-Danlos Syndrome (MEDIC)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02165085
Recruitment Status : Completed
First Posted : June 17, 2014
Last Update Posted : March 17, 2016
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
The purpose of this study is to determine whether patients with vascular Ehlers-Danlos syndrome present significant and specific changes of arterial endothelial and smooth muscular cell signalling/secretion, in comparison to matched healthy volunteers and patients with spontaneous arterial dissections.

Condition or disease
Vascular Ehlers-Danlos Syndrome

Detailed Description:
Vascular Ehlers-Danlos syndrome is a rare inherited disease which confers exceptional organ fragility in seamingly healthy young adults. The disease is caused by a mutation in the COL3A1 gene encoding type III collagen, critical to ensure physical resistance to mechanical stress of hollow organs. The disease results in increased tissular fragility, responsible of spontaneous arterial ruptures and dissections and spontaneous bowel perforations. The life-expectancy of patients with vascular Ehlers-Danlos syndrome is reduced by these recurring accidents. The exact mechanisms that trigger arterial accidents are unknown. Recent findings suggest a possible deleterious effect of inflammation and a possible dysregulation of the TGF-beta pathway. Thus, the purpose of this study is to identify further alterations in vascular endothelial and smooth muscular cell signalling/secretion, and to confirm previously suggested mechanisms of arterial accidents in vEDS patients.

Layout table for study information
Study Type : Observational
Actual Enrollment : 211 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome
Study Start Date : June 2013
Actual Primary Completion Date : July 2015
Actual Study Completion Date : July 2015


Group/Cohort
Vascular-Ehlers Danlos syndrome
N=50 patients with vascular Ehlers-Danlos syndrome
Spontaneous arterial dissection(s)
N=50 patients
Healthy volunteers
n=100 Healthy volunteers



Primary Outcome Measures :
  1. Diagnostic value of plasma biomarkers SEDv [ Time Frame: At the end of study (2 years after period of inclusion for first patient) ]
    Analysis of the diagnostic value of different levels of plasma concentrations of microRNAs


Secondary Outcome Measures :
  1. Reference value of biomarkers [ Time Frame: At the end of study (2 years after period of inclusion for first patient) ]
    Compare patients with controls SEDv and two populations (patients with arterial accident spontaneous and healthy volunteers):microRNAs, the expression of circulating markers of tissue remodeling (plasma procollagen type I and III), the expression of a marker of inflammation (sensitivity C-reactive protein CRPus)


Biospecimen Retention:   Samples Without DNA
Serum, Plasma


Information from the National Library of Medicine

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, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients with vascular Ehlers-Danlos syndrome and patients with spontaneous dissection(s) will be recruited from the French National Referral Centre for Rare arterial diseases, Hopital Europeen Georges Pompidou, Paris, France. Healthy volunteers will be recruited by the clinical investigations center, Hopital Europeen Georges Pompidou, Paris, France (random community sample).
Criteria

Inclusion Criteria:

  • Patients with vascular Ehlers-Danlos syndrome must have been positively tested for a pathogenic mutation within the COL3A1 gene.
  • In patients with arterial dissection(s) any associated systemic arterial disease must have been ruled out, especially vascular Ehers-Danlos syndrome

Exclusion Criteria:

-All subjects must not present any chronic systemic disease, any acute disease within seven days prior to enrollment, diabetes mellitus and arterial hypertension.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02165085


Locations
Layout table for location information
France
Hopital europeen Georges Pompidou
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Layout table for investigator information
Principal Investigator: Michael Frank, MD Centre de Reference des Maladies Vasculaires Rares, Hopital Europeen Georges Pompidou, APHP, Paris France
Additional Information:
Publications:
Layout table for additonal information
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02165085    
Other Study ID Numbers: P110907
First Posted: June 17, 2014    Key Record Dates
Last Update Posted: March 17, 2016
Last Verified: March 2016
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Biomarkers
Ehlers-Danlos syndrome, vascular type
Pathophysiology
Additional relevant MeSH terms:
Layout table for MeSH terms
Ehlers-Danlos Syndrome
Syndrome
Disease
Pathologic Processes
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Collagen Diseases
Connective Tissue Diseases
Skin Diseases