Biomarkers in Vascular Ehlers-Danlos Syndrome

Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02165085

Acronym

MEDIC

Enrollment

211

Registered

2014-06-17

Start date

2013-06-30

Completion date

2015-07-31

Last updated

2016-03-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Vascular Ehlers-Danlos Syndrome

Keywords

Biomarkers, Ehlers-Danlos syndrome, vascular type, Pathophysiology

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 70 Years

Healthy volunteers

Yes

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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)

Countries

France

Outcome results