Genetics of Arteriovenous Malformations

Arteriovenous Malformation Clinical Trial

Official title:

Genetics of Arteriovenous Malformations

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT02445430
• Other study ID #: 15BN031
• Status: Active, not recruiting
• Start date: May 2015
• Est. completion date: June 30, 2023

Study information

• Verified date: September 2021
• Source: St. Joseph's Hospital and Medical Center, Phoenix
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 59
• Est. completion date: June 30, 2023
• Est. primary completion date: June 30, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 6 Years to 60 Years

Eligibility

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

Related Conditions & MeSH terms

• Arteriovenous Malformation
• Arteriovenous Malformations
• Congenital Abnormalities
• Hemangioma

Locations

Country	Name	City	State
United States	Barrow Neurological Institute	Phoenix	Arizona

Sponsors (3)

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

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic alterations common to patients with AVM		sample analysis will take an expected average of six weeks