Natural History Study of CADASIL
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 CADASI
| Condition(s) | Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL, Clinical Phenotype of CADASIL |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 |
| Who can participate | * 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 |
| Ages | 18 Years to 100 Years |
| Sex | All |
| Accepts healthy volunteers | Yes |
| Lead sponsor | National Heart, Lung, and Blood Institute (NHLBI) |
| Locations | Bethesda, Maryland, United States |
| Start date | 2022-04-18 |
| NCT ID | NCT05072483 |
| Official listing | https://clinicaltrials.gov/study/NCT05072483 |