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โ† Trials
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Natural History Study of CADASIL

Recruitingn/aAges 18 Years - 100 YearsAllNational Heart, Lung, and Blood Institute (NHLBI)
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In plain words

What the trial is, and whether it could suit you

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

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
* 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 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 * Subjects with ferromagnetic dental bridges or crowns (exclusion only for 7.0T) * Subjects unable to remain supine for the expected length of the MRI (i.e., up to 1 hour) * Subjects with uncontrolled head movements * Subjects who are claustrophobic for the expected length of the MRI (i.e., up to 1 hour) and claustrophobia cannot be controlled with anti-anxiety medication.
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What it tests

  • MRI
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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