Clinical trial NCT02165085: Biomarkers in Vascular Ehlers-Danlos Syndrome
Official title: Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Vascular Ehlers-Danlos Syndrome
Keywords: Biomarkers
Ehlers-Danlos syndrome, vascular type
Pathophysiology
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2014-06-17
Enrollment: 211
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 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).

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Diagnostic value of plasma biomarkers SEDv
timeFrame: At the end of study (2 years after period of inclusion for first patient)
Secondary outcomes:
measure: Reference value of biomarkers
timeFrame: At the end of study (2 years after period of inclusion for first patient)
Other outcomes:
Locations:
city: Paris
country: France
facility: Hopital europeen Georges Pompidou
Study officials:
affiliation: Centre de Reference des Maladies Vasculaires Rares, Hopital Europeen Georges Pompidou, APHP, Paris France
name: Michael Frank, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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-beta 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.