Genetics of Arteriovenous Malformations

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

59 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-05-31

Study Completion Date

2023-06-30

Brief Summary

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

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Detailed Description

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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.

Conditions

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Arteriovenous Malformation

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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