Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study
NCT ID: NCT05677880
Last Updated: 2026-01-15
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
660 participants
OBSERVATIONAL
2022-06-03
2027-08-31
Brief Summary
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Detailed Description
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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 575 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".
Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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Non-Carrier Cohort
About 100 participants who are at-risk, healthy family members with No NOTCH3 Mutation and no symptoms or signs of cognitive decline.
Study Procedures
Participants will experience
* Neurocognitive Tests and Self-Report Measures
* Clinical Interviews
* Neurological Exam
* MRI screening at baseline, 18 months, 36 months
* Fasted Blood draw
Pre-Symptomatic NOTCH3 Cohort
About 133 participants who are pre-symptomatic, at-risk, and healthy (with verified NOTCH3 mutation) family members with no symptoms.
Study Procedures
Participants will experience
* Neurocognitive Tests and Self-Report Measures
* Clinical Interviews
* Neurological Exam
* MRI screening at baseline, 18 months, 36 months
* Fasted Blood draw
Symptomatic NOTCH3 Cohort - No Functional Decline
About 134 participants who are symptomatic (with verified NOTCH3 mutation) family members and no functional decline (e.g., mild cognitive impairment (MCI) with premorbid functional levels maintained).
Study Procedures
Participants will experience
* Neurocognitive Tests and Self-Report Measures
* Clinical Interviews
* Neurological Exam
* MRI screening at baseline, 18 months, 36 months
* Fasted Blood draw
Symptomatic NOTCH3 Cohort - Functional Decline
About 133 participants who are symptomatic family members with a verified NOTCH3 CADASIL mutation and evidence of functional decline consistent with early dementia.
Study Procedures
Participants will experience
* Neurocognitive Tests and Self-Report Measures
* Clinical Interviews
* Neurological Exam
* MRI screening at baseline, 18 months, 36 months
* Fasted Blood draw
Interventions
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Study Procedures
Participants will experience
* Neurocognitive Tests and Self-Report Measures
* Clinical Interviews
* Neurological Exam
* MRI screening at baseline, 18 months, 36 months
* Fasted Blood draw
Eligibility Criteria
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Inclusion Criteria
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
1\. Must meet same criteria as CADASIL participants, EXCEPT have negative NOTCH3 genetic testing
Exclusion Criteria
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
18 Years
ALL
Yes
Sponsors
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National Institute on Aging (NIA)
NIH
University of Wisconsin, Madison
OTHER
Responsible Party
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Principal Investigators
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Jane S Paulsen, PhD
Role: PRINCIPAL_INVESTIGATOR
University of Wisconsin, Madison
Michael D Geschwind, MD
Role: PRINCIPAL_INVESTIGATOR
University of California, San Francisco
Locations
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University of California
Los Angeles, California, United States
University of California
San Francisco, California, United States
University of Colorado
Denver, Colorado, United States
Georgia State University Research Foundation
Atlanta, Georgia, United States
Loyola University
Chicago, Illinois, United States
Columbia University
New York, New York, United States
Oregon Health & Science University
Portland, Oregon, United States
Brown University
Providence, Rhode Island, United States
University of Texas Health Science Center
Houston, Texas, United States
University of Texas
San Antonio, Texas, United States
University of Utah
Salt Lake City, Utah, United States
University of Washington
Seattle, Washington, United States
Countries
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Central Contacts
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Related Links
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Registry for CADASIL
Other Identifiers
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2021-6179
Identifier Type: OTHER
Identifier Source: secondary_id
Protocol Version 8.0
Identifier Type: OTHER
Identifier Source: secondary_id
Neurology-Gen
Identifier Type: OTHER
Identifier Source: secondary_id
2021-1033
Identifier Type: -
Identifier Source: org_study_id
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