Genetics of Arteriovenous Malformations

The goal of this study is to identify genetic alterations resulting in the development of arteriovenous malformation (AVM) in the central nervous system.

Study Overview

• Status: Active, not recruiting
• Conditions: Arteriovenous Malformation

Detailed Description

The study will include AVM patients and members of their nuclear family. All patients will donate a sample of saliva (5 mL) or blood (10 mL). Basic demographic and clinical parameters will be collected, including ethnicity, age at first presentation, symptoms at presentation, history of subsequent symptoms, treatment history, Spetzler-Martin AVM grade, medication history, and other pertinent medical information. In patients undergoing AVM resection, a small sample of the AVM will be collected for concurrent genomic analysis. Family members will donate saliva (5mL) and document their relationship to the patient (i.e., parent, sibling, child, etcl). Nucleic acids will be isolated from the saliva/blood samples, and genetic sequencing will be carried out. When a surgical sample of the AVM is available, nucleic acids will be obtained and transcriptome profiling will be performed. Identification of genetic alterations common to patients with AVM and not present in samples from parents and siblings will greatly aid in identification of pathways associated with AVM formation. Candidate sequences will be chosen by differential expression (p<0.05) and fold-changes. Once identified, mechanisms for the rapid detection of marker sequences will be developed and their predictive value tested in future collections.

• Study Type: Observational
• Enrollment (Actual): 59

Contacts and Locations

Study Locations

• United States
  • Arizona
    • Phoenix, Arizona, United States, 85013
      • Barrow Neurological Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 60 years (Child, Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Male and female persons with AVM and their immediate family members

Description

Inclusion Criteria:

• Age between 6 and 60 years inclusive
• Diagnosis of AVM or nuclear family member of a patient with AVM
• Grants access to saliva, blood, and/or tissue

Exclusion Criteria:

• Age less than 6 years or greater than 61 years
• Nuclear family members who do not share the same parents as the AVM patient

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Identification of genetic alterations common to patients with AVM	sample analysis will take an expected average of six weeks

Collaborators and Investigators

• Sponsor: St. Joseph's Hospital and Medical Center, Phoenix
• Collaborators: Translational Genomics Research Institute; The Joe Niekro Foundation
• Investigators: Principal Investigator: Joseph Zabramski, MD, Barrow Neurosurgical Associates

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2015
• Primary Completion (Anticipated): June 30, 2022
• Study Completion (Anticipated): June 30, 2023

Study Registration Dates

• First Submitted: May 11, 2015
• First Submitted That Met QC Criteria: May 12, 2015
• First Posted (Estimate): May 15, 2015

Study Record Updates

• Last Update Posted (Actual): September 21, 2021
• Last Update Submitted That Met QC Criteria: September 20, 2021
• Last Verified: September 1, 2021

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: 15BN031