Biomarkers in Vascular Ehlers-Danlos Syndrome

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Vascular Ehlers-Danlos Syndrome

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Vascular-Ehlers Danlos syndrome<br>N=50 patients with vascular Ehlers-Danlos syndrome | |
| Spontaneous arterial dissection(s)<br>N=50 patients | |
| Healthy volunteers<br>n=100 Healthy volunteers | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic value of plasma biomarkers SEDv | Analysis of the diagnostic value of different levels of plasma concentrations of microRNAs | At the end of study (2 years after period of inclusion for first patient) | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Reference value of biomarkers | 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) | At the end of study (2 years after period of inclusion for first patient) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Biomarkers, Ehlers-Danlos syndrome, vascular type, Pathophysiology