On October 5th, 2009 the National Institutes of Health announced the awarding of over $117 million in research dollars for 5 years of rare disease research through a program called the Rare Disease Clinical Research Network (RDCRN). This funding structure will provide research dollars for 19 consortia to study the biology and treatment options for more than 95 rare diseases.
Read the press release: Click HERE.
As part of this initiative, Angioma Alliance teamed up with the Brain Vascular Malformation Consortium which includes researchers and advocates for Cavernous Angioma, Sturge-Weber syndrome, and Hereditary Hemorrhagic Telangiectasia (HHT). Each of these diseases is characterized by the development of specific vascular malformations—the goal of the research project will be to determine the risk factors related to disease progression for each type of malformation.
The Cavernous Angioma project focuses on a specific familial form of the disease that is caused by a mutation termed the ‘Common Hispanic Mutation.’ This mutation is a specific genetic variant in the CCM1 gene that has been passed through at least 17 generations of families descending from the original Hispanic settlers of the American Southwest. This particular inheritable form of Cavernous Angioma is rare with an overall estimated population prevalence of 15/100,000.
The study design includes collecting detailed clinical and magnetic resonance imaging (MRI) data to examine the disease progression in each of the participants. Additionally, DNA samples will be collected from each of 500 participants. The DNA samples will be used to investigate the genetic variation between participants. Researchers aim to correlate these identified genetic differences with clinical outcome to determine underlying risk factors for the severe clinical symptoms seen in a proportion of Cavernous Angioma patients.
While this study focuses on a specific form of familial Cavernous Angioma, researchers aim to better understand the fundamental biology to lend support to future clinical studies for all forms of Cavernous angioma.
To determine if you are eligable to enroll in this study please visit our 'US and International Studies Seeking Participants' or by clicking HERE.
Webpage updated 11.5.9