Natural History Study of CADASIL
National Heart, Lung, and Blood Institute (NHLBI)
Summary
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.
Description
Study Description: This is a disease discovery/natural history protocol. We will enroll up to 110 CADASIL subjects with the goal of 100 CADASIL subjects completing the study to perform in-depth prospective and retrospective evaluations for research purposes and up to 45 healthy control subjects with the goal of 40 completing the study for comparison. Objectives: Primary Objective: This study will examine the pathogenesis and progression of CADASIL through comprehensive evaluations, and molecular studies on biospecimens collected from affected individuals. Secondary Objective: Comprehensive…
Eligibility
- Age range
- 18–100 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: Eligibility for this study may be determined based on information collected under other NHLBI-approved 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: 1. Stated willingness to comply with all study procedures and availability for the duration of the study. 2. Male or female, aged 18 to 100 years (inclusive). 3. Established diagnosis of CADASIL or NOTCH3 mutations, as determined by genetic testing. 4. Healthy controls. EXCLUSION CRITERIA: An individ…
Interventions
- DeviceMRI
Research pulse sequences.
Location
- National Institutes of Health Clinical CenterBethesda, Maryland