Biomarkers in Vascular Ehlers-Danlos Syndrome

Completed

• Conditions: Vascular Ehlers-Danlos Syndrome

• Registration Number: NCT02165085
• Lead Sponsor: 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.

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.

Study Timeline

• Study Start: 2013-06
• Study First Submitted: 2014-05-07
• Study First Submitted QC: 2014-06-13
• Study First Posted: 2014-06-17
• Primary Completion: 2015-07
• Study Completion: 2015-07
• Status Verified: 2016-03
• Last Update Submitted: 2016-03-16
• Last Update Posted: 2016-03-17

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 211

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Diagnostic value of plasma biomarkers SEDv	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

Name	Time	Method
Reference value of biomarkers	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)

Trial Locations

Locations (1)

Hopital europeen Georges Pompidou; 🇫🇷 Paris, France