The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Cerebral Cavernous Malformations
Cerebral Cavernous Malformations (CCM)
Alternative Names: Cavernous Angiomas; Cavernous Hemangiomas; Cavernomas
Disease Category: Brain Vascular Malformations
Abnormally enlarged spaces in the brain where blood collects near irregularly shaped, enlarged capillaries (tiny blood vessels) which have abnormally thin walls prone to leaking. These abnormalities may be inherited or occur sporadically in individuals with no family history. Symptoms include headaches, seizures, paralysis, hearing or vision loss, and cerebral hemorrhaging (brain bleeds).
Research groups studying this disease
Brain Vascular Malformations
Brain Vascular Malformation Consortium (BVMC)View Disease Definition
6201: Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformation
This project is focused on identification of modifiers of disease severity and progression in patients with familial cerebral cavernous malformation (FCCM), with the overall goal of identifying measurable outcomes and robust biomarkers that will help select high-risk patients and help monitor drug response in clinical trials.
Alliance to Cure Cavernous Malformation
Informs, supports, and mobilizes those affected and drives research for cavernous angioma (cavernoma, cerebral cavernous malformation).