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

NCT ID: NCT01774916

Last Updated: 2014-09-01

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: NA
• Total Enrollment: 50 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2013-01-31
• Study Completion Date: 2016-07-31

Brief Summary

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.

Conditions

Cutaneous Arteriovenous Malformations

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Blinding Strategy: NONE

Study Groups

patients

Group Type: OTHER

blood samples

Intervention Type: GENETIC

volunter

Group Type: OTHER

blood samples

Intervention Type: GENETIC

Interventions

blood samples

Intervention Type: GENETIC

Eligibility Criteria

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

• Minimum Eligible Age: 10 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique Hopitaux De Marseille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

michele DAMON

Role: STUDY_DIRECTOR

Assistance Publique Hopitaux De Marseille

Locations

Assistance Publique Hopitaux de Marseille

Marseille, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Nathalie Degardin

Role: CONTACT

nathalie.degardin@ap-hm.fr

Facility Contacts

nathalie degardin

Role: primary

nathalie.degardin@ap-hm.fr

Other Identifiers

2012-26

Identifier Type: OTHER

Identifier Source: secondary_id

2012-A00893-40

Identifier Type: -

Identifier Source: org_study_id