In collaboration with two other disease foundations (The Sturge Weber Foundation and Cure HHT), Angioma Alliance has partnered with researchers to apply for and receive a Rare Disease Clinical Research Network (RDCRN) Consortium Grant. This unique funding mechanism requires advocacy to be partners in research.
The Brain Vascular Malformations Consortium (BVMC) is a study team investigating three rare diseases that cause brain vascular malformations including, Hereditary Hemorrhagic Telanglectasia (HHT), Sturge-Weber Syndrome (SWS), and Cerebral Cavernous Malformations (CCM).
We are currently recruiting participants for a study called, “Brain Vascular Malformation Consortium: Predictors of clinical course. Project 1: Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations (CCM).”
WHY IS THIS IMPORTANT?
The goal of this study is to investigate the genetic factors that contribute CCM disease severity and progression. To address this question, researchers are looking specifically at the genetic variations in individuals with CCM1 gene mutations.
In this study, clinical, genetic and environmental information will be collected from people with the CCM1 to look for risk factors affecting CCM disease severity.
Any potential risk factors that are identified may have implications for all forms of CCM, including those with other genetic mutation or the sporadic form of the illness.
HOW TO PARTICIPATE
- Join the Angioma Alliance Patient Registry – this is the registry run by our foundation. If you enroll in this registry and are eligible for the BVMC study, or another actively enrolling study, we will contact you by email.
- Contact the Study Scientist, Amy Akers, PhD, by email at firstname.lastname@example.org
To learn more about this study, please visit: http://rarediseasesnetwork.epi.usf.edu/BVMC/
The Brain Vascular Malformation Consortium (BVMC; U54NS065705 ) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through a collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS).