Condition: Cardiovascular Disease · Arterial Stiffness · Germline Mutation in the NOTCH 3 Gene · Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
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 li…
This description comes directly from the study's public registry record.
William R Whalen, C.R.N.P. · (301) 402-9841 · william.whalen@nih.gov
Elisa A Ferrante Brenlla, Ph.D. · (301) 402-3577 · elisa.ferrante@nih.gov
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Source record: clinicaltrials.gov/study/NCT05072483