Brain Vascular Malformation Consortium (BVMC)

The Brain Vascular Malformation Consortium (BVMC) focuses on three rare brain conditions: familial cerebral cavernous malformation (CCM), Sturge-Weber syndrome (SWS), and hereditary hemorrhagic telangiectasia (HHT). These disorders are poorly understood, costly to manage, and can cause serious complications such as hemorrhages, seizures, and problems with spinal cord, nerve or brain function. Over the last ten years, the BVMC made great progress in creating patient registries that led to several important discoveries, including the gene for SWS port-wine stain, the first predictor that stratified hemorrhage risk in HHT patients with brain arteriovenous malformations, and inflammatory genetic modifiers of a novel signaling pathway involved in CCM lesion formation. These scientific discoveries in turn help doctors better diagnose and treat patients. Looking ahead to the next five years, BVMC projects will continue these important lines of work in preparation for clinical trials of treatments for these disorders, working closely with three patient advocacy groups and 24 clinical recruitment centers across North America and Europe

The Brain Vascular Malformation Consortium (BVMC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). BVMC is funded under grant number U54NS065705 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and NINDS.