Looking Back in Time to Find Rare Disease Patients Today

RARECast

One of the challenges rare disease advocates face in advancing research and treatments is finding the patients needed to understand the natural history of a disease and participate in clinical trials. That’s true for cavernous angioma, a formation of abnormal blood vessels in the brain and spinal cord with leaky walls that can cause seizures, stroke symptoms, hemorrhages, and headaches. The Angioma Alliance, though, has hit on an unusual strategy to find patients with the condition to build its registry as clinical trials for potential treatments get under way. We spoke to Connie Lee, president and CEO of the Angioma Alliance, about the condition, the start of the first clinical trial for a potential treatment, and why the history of a family who came to New Mexico in 1600 is helping identify patients with the condition today.