Actively Recruiting
Unraveling the Early Phases of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Led by University of Wisconsin, Madison · Updated on 2026-01-15
660
Participants Needed
12
Research Sites
8 weeks
Total Duration
On this page
Sponsors
U
University of Wisconsin, Madison
Lead Sponsor
N
National Institute on Aging (NIA)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a common inherited vascular dementia that leads to vascular cognitive impairment and dementia (VCID). This observational study aims to understand the risk factors and progression of CADASIL by examining biological, imaging, and clinical changes from early to symptomatic stages. The study will enroll 575 participants with a family history of CADASIL who have undergone genetic testing for a NOTCH3 variant. Participants will be grouped based on their genetic status and symptoms: healthy family members without the NOTCH3 mutation, pre-symptomatic members with the mutation, symptomatic members without functional decline, and symptomatic members with early dementia signs. The study involves no drug treatment but includes clinical interviews, neurological exams, neurocognitive and behavioral assessments, MRI scans, and blood draws. There will be three in-person visits at baseline, 18 months, and 36 months, with additional remote contacts as needed. During the study, participants will complete evaluations to measure cognitive function, brain volume, brain connectivity, and biomarkers like Neurofilament Light. The researchers will track changes over 36 months and assess disability and disease severity scores. Participants will be monitored through clinical exams, imaging, and questionnaires, with a total commitment of up to five years. The study aims to gather detailed information on CADASIL progression and factors influencing outcomes.
CONDITIONS
Brief Title
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Must be at least 18 years old
- Positive NOTCH3 genetic testing, positive skin biopsy, or willingness to have a NOTCH3 genetic test before enrolling
- At-risk for or clinically diagnosed with CADASIL
- Willing to commit to three in-person visits: baseline, 18 months, and 36 months, plus remote visits as needed
- Willing to provide documentation of all current medications throughout the study
- Willing and able to undergo MRI scans and blood draws at each in-person visit
- Must have a designated study companion who knows the participant well and can provide additional information
- Functional capacity less than 4 on the Modified Rankin Scale
- Healthy controls must meet the same criteria except have negative NOTCH3 genetic testing
You will not qualify if you...
- History of severe learning disability, intellectual disability, or neurological disease unrelated to CADASIL
- History of serious alcohol or drug abuse within the past year
- Unwilling to undergo NOTCH3 genetic testing if no test is on file
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 36 months
Participants complete neurocognitive tests, clinical interviews, neurological exams, MRI scans, and blood draws to assess their cognitive and neurological status.
3 in-person visits at baseline, 18 months, and 36 months, plus remote visits as needed
Duration - 36 months
Participants are monitored over time to track changes in brain structure, cognitive function, and biomarkers related to CADASIL.
Remote visits as needed throughout the study
Trial Site Locations
Total: 12 locations
1
University of California
Los Angeles, California, United States, 90095
Actively Recruiting
2
University of California
San Francisco, California, United States, 94143
Actively Recruiting
3
University of Colorado
Denver, Colorado, United States, 80204
Actively Recruiting
4
Georgia State University Research Foundation
Atlanta, Georgia, United States, 30303
Actively Recruiting
5
Loyola University
Chicago, Illinois, United States, 60660
Actively Recruiting
6
Columbia University
New York, New York, United States, 10027
Actively Recruiting
7
Oregon Health & Science University
Portland, Oregon, United States, 97239
Actively Recruiting
8
Brown University
Providence, Rhode Island, United States, 02912
Actively Recruiting
9
University of Texas Health Science Center
Houston, Texas, United States, 77030
Not Yet Recruiting
10
University of Texas
San Antonio, Texas, United States, 78249
Not Yet Recruiting
11
University of Utah
Salt Lake City, Utah, United States, 84112
Actively Recruiting
12
University of Washington
Seattle, Washington, United States, 98195
Actively Recruiting
Research Team
C
Cadasil Consortium
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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