Actively Recruiting
Natural History Study of CADASIL
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-05-14
155
Participants Needed
1
Research Sites
997 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Natural History Study of CADASIL
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to comply with all study procedures and availability for the duration of the study
- Male or female aged 18 to 100 years (inclusive)
- Established diagnosis of CADASIL or NOTCH3 mutations by genetic testing, or healthy control status
You will not qualify if you...
- Pregnancy at time of consent
- Lack of capacity to consent without a legally authorized representative
- Decline to provide blood and/or tissue samples
- Do not speak English
- Scans or exams showing brain conditions other than CADASIL that interfere with test interpretation
- Unable to undergo MRI or presence of internal non-MRI compatible metals (e.g., pacemaker, brain stimulator, shrapnel, surgical metal, clips, cochlear implants, artificial heart valves, metal fragments in eye)
- Presence of ferromagnetic dental bridges or crowns (exclusion for 7.0T MRI only)
- Unable to remain supine for up to 1 hour during MRI
- Uncontrolled head movements
- Claustrophobia during MRI not controlled by medication
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
W
William R Whalen, C.R.N.P.
CONTACT
E
Elisa A Ferrante Brenlla, Ph.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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