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

NCT01774916 | Unknown

• 2 other identifiers: 2012-A00893-402012-26
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• The exploration of the microparticles, endothelial cells and progenitor cells

  36 months

Secondary Outcomes (1)

• investigate the relationship between endothelial markers and genetic and clinical characteristics of the disease

  36 months

Study Arms (2)

patients

OTHER

Genetic: blood samples

volunter

OTHER

Genetic: blood samples

Interventions

blood samples GENETIC

patients; volunter

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance Publique Hopitaux de Marseille

Marseille, 13006, France

RECRUITING

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• michele DAMON

  Assistance Publique Hopitaux De Marseille

  STUDY DIRECTOR

Central Study Contacts

Nathalie Degardin

CONTACT

nathalie.degardin@ap-hm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 22, 2013
• First Posted: January 24, 2013
• Study Start: January 1, 2013
• Primary Completion: January 1, 2016
• Study Completion: July 1, 2016
• Last Updated: September 1, 2014

Record last verified: 2014-08

Locations

FR (1)