Natural History Study of CADASIL

Trial Information
Status: Recruiting
Location: See location...
Study Type: Observational

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.

Am I eligible for this trial?
Participation Requirements
Minimum Age:
Maximum Age:
Healthy Volunteers:
Accepts Healthy Volunteers

• Eligibility for this study may be determined based on information collected under other NHLBIapproved protocols, outside records and patient report. In order to be eligible to participate in this study, an individual must meet criteria 1 & 2 and either criteria 3 or 4:

• Stated 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, as determined by genetic testing.

• Healthy controls.

Where is this trial taking place?
United States
National Institutes of Health Clinical Center
Who do I contact about this trial?
Katherine Carney
(301) 402-9841
Manfred Boehm, M.D.
(301) 435-7211
When is this trial taking place?
Start Date: April 18, 2022
Estimated Completion Date: June 1, 2041
How many participants will be in this trial?
Target number of participants: 140
What treatment is being studied in this trial?
Healthy controls
Healthy controls for exploratory analyses, where the measurements were not commonly performed previously in other populations, for qualitative comparison with CADASIL population
Subjects with CADASIL
Adult genetically-confirmed patients with a wider range of CADASIL disease duration and debility
Who are the authors of this trial?
Manfred Boehm

This content was sourced from

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