CADASIL Consortium Study

  • Study Director: Michael Geschwind, MD, PhD
  • Sponsor:  National Institute of Aging, National Institutes of Health
  • Official Study Title:  Unraveling the earliest phases of vascular cognitive impairment and dementia using CADASIL – a monogenic form of small vessel cerebrovascular disease
  • Conditions Studied: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Purpose of the Study

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary vascular dementia. CADASIL is thought to be caused by mutations of the Notch3 gene on chromosome 19. The specific biological pathway for the disease course is not yet understood, but great advances are being made by researchers around the world. CADASIL is characterized by migraine headaches, multiple small strokes, episodic sensory and visual problems, apathy, depression and progressive cognitive and functional decline, resulting in dementia. As a result of these impairments, individuals with CADASIL will experience significant changes in their quality of life over the disease course.

Working directly with CADASIL families, we will characterize the initial presentation and course of clinical, neuroimaging and blood markers. We will then compare these markers of disease with those from non-carrier family controls (NC). NC are persons from a CADASIL family who do not have the gene causing CADASIL. This approach will allow the team to identify at what point CADASIL individuals’ clinical, neuroimaging and blood 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 will enable the team to clarify genetic, health and lifestyle factors that impact clinically meaningful conclusions in CADASIL.

Study Details

Our study aims to enroll a total of 500 participants across North America.

Inclusion Criteria: Eligible participants will have a genetic test for a NOTCH3 variant.

Exclusion Criteria:  

What to Expect

Testing: Participants will complete the following at each study visit: a clinical interview, a neurological exam, neurocognitive and behavior assessments, a brain scan, and a blood draw.

The Frequency of Visits: As part of this study, participants will complete three in-person visits in total: 1.) the baseline visit; 2.) first follow-up visit (18 months after the baseline); 3.) second follow-up visit (36 months after baseline). Additional contact will occur by phone, mail, or email or via the internet and is considered a “remote visit.”

Materials Needed Before Evaluation: A genetic test for a NOTCH3 variant

Costs: No costs will be charged for any of the study procedures. Parking will be validated for the 1625 Owens Street Garage or 1630 Third Street Garage at the UCSF Mission Bay campus for all study visits. Participants are responsible for their travel and hotel, should they choose to stay in one.

Contact Information

If you are interested in participating in this study or have any questions, please see the CADASIL Consortium website. You may also contact UCSF coordinator Iman Fathali at [email protected] or principal investigator Dr. Michael Geschwind at [email protected].