Program Overview

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a disease which consists in impaired thinking, reasoning, or remembering processes caused by brain damage owing to decreased blood flow to the brain. CADASIL is an inherited condition that causes stroke as well as other impairments because it affects blood flow in small blood vessels (particularly in the brain) and the muscle cells surrounding these vessels. As a result of these impairments, individuals with CADASIL will experience significant changes in their quality of life over the disease course. This study is designed to look at how a person’s body, brain, and behavior change throughout the stages of this disease and at which factors might present additional risks or protections.


Our research team aims to pave the way for new studies of and treatments for the trajectory or disease course of vascular cognitive impairment and dementia (VCID). We do so by treating CADASIL, a less common form of VCID, as a model for other more common forms of VCID. More specifically, we are investigating the clinical, imaging, and genetic features of CADASIL so that we may better understand similar features in VCID generally and better grasp the interactions between these features and other risk factors which impact the aging life course.


Working directly with CADASIL gene mutation carriers (individuals diagnosed with CADASIL), we will characterize the initial presentation and course of clinical, neuroimaging, and fluid markers. We will then compare these markers or diagnostic indications of disease with those from non-carrier controls (NC). NC are an individual’s family or relatives who have not been diagnosed with CADASIL. This approach will allow the team to identify at what point individuals’ clinical, neuroimaging, and fluid markers begin to differ from those of NC and which markers reliably indicate that an individual’s condition is worsening. In addition, the use of DNA analysis, medical history, and lifestyle questionnaires should enable the team to clarify genetic, health, and lifestyle factors which impact clinically meaningful conclusions in CADASIL.


Our study aims to enroll a total of 500 participants across the United States. Eligible participants will have previously had a genetic test for a NOTCH3 variant. As part of this study, participants will complete three in-person visits in total: 1.) the baseline visit; 2.) visit II (18 months after the baseline); 3.) visit III (36 months after baseline). Additional contact will occur by phone, mail, email, or via the Internet; this contact is considered as a “remote visit”.  Participants will also complete the following at each study visit: a clinical interview, a neurological exam, neuro-cognitive and behavior assessments, MRI, and a blood draw.


Who can join:

a)           Age at least 18 years old.

b)           Positive NOTCH 3 genetic testing.

c)           Willing to commit to three in-person visits (baseline and 18-month follow-up and 36-month follow-up) as well as remote visits by phone, email, mail or internet. 

d)           Able to undergo an MRI scan and blood draw at each visit.

 

RESEARCH SITES: