Project Description

The CADASIL Consortium Study

Lead Investigator: Dr. Jane Paulsen, PhD

Research Contact: [email protected] or call: 833-795-3016

Studies of the natural history of CADASIL are critical first steps necessary to design the clinical trials that will test the effectiveness of measures to prevent and treat CADASIL. These “Natural History Studies” help investigators know who should be enrolled in clinical trials, what measurements (or “biomarkers”) should be part of the trial, and what outcomes that are important to patients should be measured to see if the intervention works!

The CADASIL Consortium Study is a natural history study funded by the National Institutes of Health. It is being conducted at 12 sites in the US:

  • Brown University, Providence
  • Colombia University, New York
  • Georgia State University, Atlanta
  • Loyola University, Chicago
  • Oregon Health and Science University, Portland
  • University of California, Los Angeles
  • University of California, San Francisco
  • University of Colorado, Denver
  • University of Texas Health Science Center, San Antonio
  • University of Utah, Salt Lake City
  • University of Washington, Seattle
  • University of Wisconsin – Madison

The study aims to enroll a total of 500 participants across North America. Eligible participants will have a genetic test for a NOTCH3 variant, or a family history of CADASIL if untested, in which testing can be offered through the study. 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, email, or via the Internet and is considered a “remote visit”.  Participants will complete the following at each study visit:

  • have an interview about their health
  • take tests that will assess language, motor, and memory skills
  • complete a neurological exam
  • have a brain MRI scan
  • provide a blood sample

Expenses are paid.  If you are interested in participating in this important study, you can email the study directly, or call to speak with someone directly:

Email: [email protected]
Toll free: 833-795-3016