Genetics of Arteriovenous Malformations

St. Joseph's Hospital and Medical Center, Phoenix (Other)
Overall Status
Active, not recruiting ID
Translational Genomics Research Institute (Other), The Joe Niekro Foundation (Other)

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Actual Enrollment :
    59 participants
    Observational Model:
    Time Perspective:
    Official Title:
    Genetics of Arteriovenous Malformations
    Actual Study Start Date :
    May 1, 2015
    Anticipated Primary Completion Date :
    Jun 30, 2022
    Anticipated Study Completion Date :
    Jun 30, 2023

    Outcome Measures

    Primary Outcome Measures

    1. Identification of genetic alterations common to patients with AVM [sample analysis will take an expected average of six weeks]

    Eligibility Criteria


    Ages Eligible for Study:
    6 Years to 60 Years
    Sexes Eligible for Study:
    Accepts Healthy Volunteers:
    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

    Contacts and Locations


    Site City State Country Postal Code
    1 Barrow Neurological Institute Phoenix Arizona United States 85013

    Sponsors and Collaborators

    • St. Joseph's Hospital and Medical Center, Phoenix
    • Translational Genomics Research Institute
    • The Joe Niekro Foundation


    • Principal Investigator: Joseph Zabramski, MD, Barrow Neurosurgical Associates

    Study Documents (Full-Text)

    None provided.

    More Information


    None provided.
    Responsible Party:
    Lisa Arnold, Research Manager, St. Joseph's Hospital and Medical Center, Phoenix Identifier:
    Other Study ID Numbers:
    • 15BN031
    First Posted:
    May 15, 2015
    Last Update Posted:
    Sep 21, 2021
    Last Verified:
    Sep 1, 2021

    Study Results

    No Results Posted as of Sep 21, 2021