for people ages 18 years and up (full criteria)
Healthy Volunteers
healthy people welcome
at San Francisco, California and other locations
study started
completion around
Principal Investigator
by Michael D Geschwind, MD
Headshot of Michael D Geschwind
Michael D Geschwind



This is an observational study to better understand the risk factors and progression of CADASIL, 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 as needed and will be referred to as "remote visits".


CADASIL, neurodegeneration, dementia, cognitive impairment, NOTCH3, vascular dementia, Leukoencephalopathies, Multi-Infarct Dementia, Study Procedures


You can join if…

Open to people ages 18 years and up

for CADASIL Participants:

1. Must be at least 18 years old 2. Positive NOTCH3 genetic testing; OR a positive skin biopsy; OR a willingness to have a NOTCH3 genetic test completed prior to enrolling AND are at-risk for, or diagnosed clinically with, CADASIL 3. Willing to commit to three in-person visits (a baseline visit, an 18-month follow-up, and a 36-month follow-up) and to remote visits as needed by phone, email, mail or internet 4. Willing to provide documentation of all current medications to study team a. All medications will be allowed throughout the course of study. Documentation of medications will be used for analyses to assess potential impact of medications on study outcomes. 5. Willing and able to undergo an MRI scan and blood draw at each in-person visit 6. Must have a designated "study companion" a. A "study companion" is someone who knows the participant well (has greater than or equal to 3 hours/month of contact with the CADASIL participant) and can provide additional information to the study team (either remotely or in-person). 7. A functional capacity less than 4 on the Modified Rankin Scale Inclusion Criteria for Healthy Controls (HC): 1. Must meet same criteria as CADASIL participants, EXCEPT have negative NOTCH3 genetic testing

You CAN'T join if...

  1. History of severe learning disability, intellectual disability, or other neurological disease or event not attributable to CADASIL
  2. History of serious alcohol or drug abuse within the past year
  3. Unwilling to undergo NOTCH3 genetic testing if there is no test on file


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

Lead Scientist at UCSF

  • Michael D Geschwind, MD
    Dr. Geschwind received his M.D.and Ph.D. in neuroscience through the National Institutes of Health (NIH)-sponsored Medical Scientist Training Program (MSTP) at the Albert Einstein College of Medicine in New York.


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