Natural History Study of CADASIL

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Oct 8, 2021

Keywords

ClinConnect Summary

This clinical trial is studying a genetic condition called CADASIL, which affects blood vessels in the brain and can lead to serious problems like strokes and dementia. The goal is to understand how CADASIL changes blood vessel health over time. Adults aged 18 and older who have been diagnosed with CADASIL or carry a specific gene mutation related to this condition are eligible to participate. Healthy volunteers are also welcome to join the study.

Participants will take part in four study visits over nine years, where they'll undergo various tests, including blood and urine samples, heart activity monitoring, eye exams, and brain scans. These visits will last from 6 to 8 hours each day. Participants may also complete tasks to assess their memory and attention. It's important to note that those who are pregnant, unable to provide consent, or have certain medical conditions may not be able to participate. This study aims to gather valuable information that could help improve care for people with CADASIL in the future.

Gender

ALL

Eligibility criteria

• * 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 or nursing 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.