View clinical trials related to Clinical Phenotype of CADASIL.
Filter by:Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia. Researchers want to monitor people with CADASIL over time. Objective: To learn more about how CADASIL affects a person s blood vessels over time. Eligibility: Adults ages 18 and older who have CADASIL, and healthy volunteers. Design: Participants will be screened with a medical record review. Participants will have 4 study visits over 9 years. Visits will last 6 8 hours per day, for 2 4 days. Participants will give blood and urine samples. They will have an electrocardiogram to record their heart s electrical activity. They will fill out a family tree. They will have tests that measure mental abilities like memory and attention. They may have a skin biopsy. They may have a lumbar puncture. Participants will have an eye exam. Their pupils will be dilated. They will receive a dye via intravenous (IV) line. Pictures will be taken of their eyes. Participants will have an imaging scan of their brain. They may receive a contrast agent via IV. Participants blood flow and blood vessel flexibility will be measured. In one test, a probe will be pressed against the skin of the their wrist, neck, and groin. In another test, they will hold one arm still while a microscope makes videos of the blood flow through a fingernail. In another test, they will perform light exercise or other activities while wearing an elastic band around their head or probes placed on their arm or leg. Healthy volunteers will complete some of the above tests.
Cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL) is a lethal disease caused by a gene mutation that affects arteries in the brain. Symptoms include migraines, strokes, memory loss, and dementia. There are no treatments. Researchers want to study people who have CADASIL to learn more about it. Objectives: To learn more about CADASIL by studying people who have it. Eligibility: People ages 18-100 who were diagnosed with CADASIL in the past 5 years and can make their own decisions Design: Participants will be screened in another NIH protocol. Participants will have 3 visits over 2 years. These may include: - Physical exam - Thinking and concentration tests - Blood tests - Skin biopsy: A small skin punch is removed from the arm or leg - Eye exam and eye imaging tests - Fluorescein angiogram: A catheter is placed in an arm vein. Dye is given through the catheter and travels to the eyes. - EndoPAT: A small clamp on the fingertip measures blood volume. - Cardio-ankle vascular index (CAVI): Artery stiffness is tested with blood pressure cuffs on the arms and legs. Soft electrodes on the skin measure heart signals. - Brain MRI or MRA: They lie on a table that slides in and out of a tube that takes pictures. They may get a contrast agent in their vein. It brightens the brain so researchers can see where blood flows. - CT scan of the heart: They lie on a table that slides in and out of a machine that takes pictures. - They get contrast dye injected through a catheter. They may get a medicine that makes their blood vessels bigger or slows their heart rate.