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.
|Condition or Disease||Intervention/Treatment||Phase|
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.
Primary Outcome Measures
- Identification of genetic alterations common to patients with AVM [sample analysis will take an expected average of six weeks]
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
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
|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.