An observational study in Vascular Ehlers-Danlos Syndrome, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 18 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2016-03-17.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
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.
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.
Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,578 studies on the registry; 1,030 are open to participants now.
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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).
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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.
N=50 patients with vascular Ehlers-Danlos syndrome
N=50 patients
n=100 Healthy volunteers
Diagnostic value of plasma biomarkers SEDv
Analysis of the diagnostic value of different levels of plasma concentrations of microRNAs
Time frame: At the end of study (2 years after period of inclusion for first patient)
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)
Time frame: At the end of study (2 years after period of inclusion for first patient)
This study is completed, as verified in Mar 2016. You cannot join it, but the record below documents what was studied.
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Ehlers-Danlos Syndrome, Type IV
Assistance Publique - Hôpitaux de Paris →