Clinical Trial: Biomarkers in Vascular Ehlers-Danlos Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome

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.

Detailed Summary: 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.
Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: 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


Original Primary Outcome: Same as current

Current Secondary Outcome: 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)


Original Secondary Outcome: Same as current

Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: May 7, 2014
Date Started: June 2013
Date Completion:
Last Updated: March 16, 2016
Last Verified: March 2016