for people ages 18 years and up (full criteria)
Healthy Volunteers
healthy people welcome
at San Francisco, California and other locations
study started
estimated completion



This is an observational study to understand better the risk factors and progression of a leading cause of vascular cognitive impairment and dementia (VCID). 500 participants will be enrolled and can expect to be on study for up to 5 years.

Official Title

Unraveling the Early Phases of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)


Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the most common monogenic vascular dementia. Individuals with CADASIL are destined to develop vascular cognitive impairment and dementia (VCID), which can be studied in pre-symptomatic and prodromal disease stages to detect the earliest changes in biological fluids, neuroimaging, and the emerging phenotype of symptomatic VCID.

The objective of the proposed research is to exploit an autosomal dominant vascular dementia as a model to investigate specific features of VCID and to examine interactions with risk factors impacting the aging life course.

The study will enroll a total of 500 participants with a CADASIL family history who have had a genetic test for a NOTCH3 variant. Participants will complete: a clinical interview, a neurological exam, neurocognitive and behavior assessments, MRI, and a blood draw at each study visit. Participants will complete 3 in-person visits in total as part of this study: baseline, visit 2 (18 months after baseline), visit 3 (36 months after baseline). Additional contact will occur by phone, mail, email or the internet and will be referred to as "remote visits".


CADASIL, dementia, cognitive impairment, Leukoencephalopathies, Multi-Infarct Dementia, Study Procedures


You can join if…

Open to people ages 18 years and up

for CADASIL Participants:

- Age at least 18 years old - Positive NOTCH 3 genetic testing - 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. - No unstable comorbidities (i.e., receiving stable treatment) that could affect neurological/psychiatric function - All medications will be allowed although the protocol will mandate documentation of medications and our analyses will particularly assess potential impact of medications on outcomes (i.e., sedation of abnormal movements). - Able to undergo an MRI scan and blood draw at each visit - A companion who knows the participant well (>= 3 hours/month of contact) and can provide additional information (either remotely or in-person). Inclusion Criteria for Healthy Controls (HC) - Will meet same criteria as CADASIL participants except - Negative NOTCH3 genetic testing

You CAN'T join if...

  • Evidence of unstable (not stable or treated for at least 3 months) medical or psychiatric illness (including substance abuse)
  • History of severe learning disability, mental retardation, or other central nervous system (CNS) disease or event not attributable to CADASIL (e.g., seizures, additional neurological diagnoses)
  • History of serious alcohol or drug abuse within the past year


  • University of California accepting new patients
    San Francisco California 94143 United States
  • University of California accepting new patients
    Los Angeles California 90095 United States


accepting new patients
Start Date
Completion Date
University of Wisconsin, Madison
Study Type
Expecting 500 study participants
Last Updated