This research study will provide a better understanding of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and, by extension, other forms of vascular cognitive impairment and dementia (VCID). It is not a treatment study. Rather, it is a study to develop the best methods for future clinical care and clinical trials for experimental treatments. Researchers will use the information and samples to prepare data for review by the Critical Path Institute in concert with the Food and Drug Administration so that future treatments can be delivered to persons with the CADASIL gene at the best time possible.
To develop those methods, this research study will enroll 500 participants with a CADASIL family history so long as they are at least 18 years of age and have previously had a genetic test for NOTCH3 variant. 100 of these participants will be non-carrier controls (NC) or family members and relatives who have not been diagnosed with CADASIL. Participants will be asked to complete at least three in-person study visits over the course of five years: 1.) the baseline visit; 2.) visit II (18 months after the baseline); 3.) visit III (36 months after baseline). Each in-person study visit will last about six hours. Participants may also be contacted for a remote visit of less than an hour (conducted by phone, mail, email, or via the Internet) between in-person visits.
Each in-person visit will consist of three main parts. The clinical assessment includes an interview about the participant’s medical history and background and a series of tests to establish cognition and motor skills. The biological assessment includes a blood draw, samples of which will be shared with the National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD) and a biotechnology laboratory (REGENERON). Finally, the neuroimaging assessment includes a brain scan with a magnetic resonance imaging (MRI) scanner. If the participant gives permission, these scans may be shared with other researchers at academic institutions, hospitals, and biotechnology/pharmaceutical companies.
Data from this study will be submitted to the National Institutes of Health Data Archive (NDA). NDA is a data repository run by the National Institutes of Health (NIH) that allows researchers studying disease to collect and share de-identified information with each other. A data repository is a large database where information from many studies is stored and managed. De-identified information means that all personal information about research participants such as name, address, and phone number is removed and replaced with a code number.