BVMC Natural History

The Brain Vascular Malformations Consortium (BVMC) is a study team investigating three rare diseases that cause brain vascular malformations including, Hereditary Hemorrhagic Telangiectasia (HHT), Sturge-Weber Syndrome (SWS), and Cerebral Cavernous Malformations (CCM).

The CCM project is currently recruiting participants for a study called, “Brain Vascular Malformation Consortium: Predictors of clinical course. Project 3: Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations (CCM).” The goal of this study is to investigate the genetic factors that contribute to CCM disease severity and progression.

To address this question, researchers are looking specifically at the genetic variations in individuals with familial CCM. To qualify, participants must have a positive CCM diagnosis and affected family member(s), or a known mutation in one of the CCM genes.

In this study, clinical, genetic, and environmental information will be collected from participants to look for risk factors affecting CCM disease severity. Study participants will be asked to provide a sample of their blood or saliva, surgical tissue, a stool sample for microbiome analysis, and also to allow the research team to study their medical and imaging records.

For more information, or to contact a study site near you, please visit this PAGE.

 

Updated 4.17.22