Biomarkers in Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome Clinical Trial

— MEDIC  

Official title:

Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02165085
• Other study ID #: P110907
• Status: Completed
• Phase: N/A
• First received: May 7, 2014
• Last updated: March 16, 2016
• Start date: June 2013
• Est. completion date: July 2015

Study information

• Verified date: March 2016
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France:Agence Nationale de Securite du Medicament et des Produits de Sante
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 211
• Est. completion date: July 2015
• Est. primary completion date: July 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years to 70 Years

Eligibility

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

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Ehlers-Danlos Syndrome
• Syndrome
• Vascular Ehlers-Danlos Syndrome

Locations

Country	Name	City	State
France	Hopital europeen Georges Pompidou	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (1)

Morissette R, Schoenhoff F, Xu Z, Shilane DA, Griswold BF, Chen W, Yang J, Zhu J, Fert-Bober J, Sloper L, Lehman J, Commins N, Van Eyk JE, McDonnell NB. Transforming growth factor-ß and inflammation in vascular (type IV) Ehlers-Danlos syndrome. Circ Cardiovasc Genet. 2014 Feb;7(1):80-8. doi: 10.1161/CIRCGENETICS.113.000280. Epub 2014 Jan 6. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)	No
Secondary	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)	No

External Links

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