Natural History Study of CADASIL
Eligible age
18–100 yrs
Accepts
All genders
Locations
1 state
Healthy volunteers
Yes
See if you qualify for this study
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About this study
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.
Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
You may not qualify if…
- ✕ An individual who meets any of the following criteria will be excluded from participation in this study:
- ✕ 1. Pregnancy at time of consent.
- ✕ 2. Subjects who lack capacity to consent and don't have a legally authorized representative.
- ✕ 3. Subjects who decline to provide samples for blood and/or tissue studies.
- ✕ 4. Subjects who do not speak English.
- ✕ 5. Subjects whose scans or examinations show unexpected brain conditions (outside of CADASIL) which would interfere with interpretation of testing.
- ✕ 6. Subjects unable to undergo an MRI scan or subjects meeting the following criteria:
- ✕ Subjects who have internal non-MRI compatible metals (i.e., cardiac pacemaker, brain stimulator, shrapnel, surgical metal, clips in the brain or on blood vessels, cochlear implants, artificial heart valves or metal fragments in the eye) as these rendering an MRI unsafe
Where it's recruiting
Bethesda
Source: ClinicalTrials.gov · NCT05072483 · last updated 2026-05-26