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CCM3 syndrome is a genetic condition characterized by the development of abnormal mulberry-shaped blood vessels in the brain and spinal cord. These leaky blood vessels, called cavernous angiomas (CCAs), lead to an increased risk of seizures and cerebral hemorrhage. CCM3 syndrome also increases risk of benign brain tumors and scoliosis. Onset of symptoms can occur in childhood or adulthood. CCM3 syndrome is caused by DNA changes in the gene PDCD10 (also known as CCM3), which is thought to play a role in a variety of functions, including the formation and integrity of blood vessel walls and the gut lining. Current treatment is aimed at easing symptoms of the condition or surgically removing the abnormal blood vessels.
The latest on our research
We are jumpstarting our CCM3 syndrome program in partnership with the Angioma Alliance to accelerate research for the condition. We welcome all patients and caregivers interested in participating and spreading the word to the CCM3 syndrome community.