Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations

Cutaneous Arteriovenous malformations (AVM's) rare congenital high-flow vascular malformations in which arteries and veins are directly connected through a complex web of abnormal arteries and veins instead of a normal capillary network. Arterial feeders and enlarged draining veins directly connect through arteriovenous fistulas that create the "nidus". The natural history of AVMs is organized into a clinical staging system: during the first phase of quiescence, the arteriovenous malformation mimics a capillary malformation. After many years, the AVM may enlarge with loco-regional expansion and tissular destruction. At the ultimate stage, AVM may impact the heart function. They are considered non malignant but can expand and become a significant clinical risk when extensive. The management of these high flow AVM remains often problematic. Complete and large surgical excision of the nidus after hyperselective embolization is the only potential therapeutic solution but this, is often difficult if not impossible. There is no pathogenetic hypothesis for the development of these malformations. Histopathological examination (performed only on surgical resection specimen) is poor and does not provide sufficient evidence to assess the evolutivity or the severity of the MAV. Recent data hypothesize that these vascular malformations are associated with alterations of the vascular endothelium caused by genetic abnormalities involved in the control of angiogenesis and vascular homeostasis. The detection of these anomalies allows the search for cellular and genetic markers that might be useful to optimize the clinical classification, staging, predicting the evolution of these defects and some understanding of its pathophysiological mechanisms. To our knowledge, no studies to identify cellular markers / genetic and endothelial associated with the development of cutaneous AVMs have been published to date.

Study Overview

• Status: Unknown
• Conditions: Cutaneous Arteriovenous Malformations
• Intervention / Treatment: Genetic: blood samples

• Study Type: Interventional
• Enrollment (Anticipated): 50
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: nathalie degardin; Email: nathalie.degardin@ap-hm.fr

Study Locations

• France
  • Marseille, France, 13006
    • Recruiting
    • Assistance Publique Hopitaux de Marseille
    • Contact: nathalie degardin; Email: nathalie.degardin@ap-hm.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Male or feminine Subject
• Subject of 10 and more years old,
• Subject weighing more than 55 kg. patients:
• Subject presenting a cutaneous artério-venous deformation there outside of any other deformation or known vascular tumor.
• Subject presenting no other susceptible pathology to influence endothéliaux markers (Renal insufficiency, inflammatory pathology chronicles, infections, pathologies cardiovascular, diabetes, evolutionary tumoral pathology).

volunteers:

• Unhurt Subject of deformation or vascular tumor.
• Subject presenting no other susceptible pathology to influence endothéliaux markers(scorers) (Renal insufficiency, inflammatory pathology chronicles, infections, pathologies cardiovascular).

Exclusion Criteria:

• Subject of less than 10 years old
• Subject weighing less than 55 kg
• Subject presenting another type(chap) of vascular vascular deformation or tumor

Study Plan

How is the study designed?

Design Details

• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: patients	Genetic: blood samples
Other: volunter	Genetic: blood samples

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
The exploration of the microparticles, endothelial cells and progenitor cells	36 months

Secondary Outcome Measures

Outcome Measure	Time Frame
investigate the relationship between endothelial markers and genetic and clinical characteristics of the disease	36 months

Collaborators and Investigators

• Sponsor: Assistance Publique Hopitaux De Marseille

Study record dates

Study Major Dates

• Study Start: January 1, 2013
• Primary Completion (Anticipated): January 1, 2016
• Study Completion (Anticipated): July 1, 2016

Study Registration Dates

• First Submitted: January 22, 2013
• First Submitted That Met QC Criteria: January 22, 2013
• First Posted (Estimate): January 24, 2013

Study Record Updates

• Last Update Posted (Estimate): September 1, 2014
• Last Update Submitted That Met QC Criteria: August 29, 2014
• Last Verified: August 1, 2014

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Neoplasms by Histologic Type; Neoplasms; Cardiovascular Abnormalities; Neoplasms, Vascular Tissue; Vascular Malformations; Congenital Abnormalities; Hemangioma; Arteriovenous Malformations
• Other Study ID Numbers: 2012-A00893-40; 2012-26 (Other Identifier: AP HM)