Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study

Last updated: March 14, 2025
Sponsor: University of Wisconsin, Madison
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

Study Procedures

Clinical Study ID

NCT05677880
2021-1033
Protocol Version 8.0
Protocol Version 1.0
Neurology-Gen
Protocol Version 7.0
2021-6179
1RF1AG074608-01
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study Summary

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). 575 participants will be enrolled and can expect to be on study for up to 5 years.

Eligibility Criteria

Inclusion

Inclusion Criteria 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 havea NOTCH3 genetic test completed prior to enrolling AND are at-risk for, or diagnosedclinically with, CADASIL

  3. Willing to commit to three in-person visits (a baseline visit, an 18-monthfollow-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 ofmedications will be used for analyses to assess potential impact of medications onstudy 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 thanor equal to 3 hours/month of contact with the CADASIL participant) and can provideadditional 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 genetictesting

Exclusion

Exclusion Criteria:

  1. History of severe learning disability, intellectual disability, or otherneurological 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

Study Design

Total Participants: 575
Treatment Group(s): 1
Primary Treatment: Study Procedures
Phase:
Study Start date:
June 03, 2022
Estimated Completion Date:
January 31, 2026

Study Description

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 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".

Connect with a study center

  • University of California

    Los Angeles, California 90095
    United States

    Active - Recruiting

  • University of California

    San Francisco, California 94143
    United States

    Active - Recruiting

  • University of Colorado

    Denver, Colorado 80204
    United States

    Active - Recruiting

  • Emory University

    Atlanta, Georgia 30322
    United States

    Active - Recruiting

  • Georgia State University Research Foundation

    Atlanta, Georgia 30303
    United States

    Active - Recruiting

  • Loyola University

    Chicago, Illinois 60660
    United States

    Active - Recruiting

  • Columbia University

    New York, New York 10027
    United States

    Site Not Available

  • Columbia University

    New York City, New York 10027
    United States

    Active - Recruiting

  • Oregon Health & Science University

    Portland, Oregon 97239
    United States

    Active - Recruiting

  • Brown University

    Providence, Rhode Island 02912
    United States

    Active - Recruiting

  • University of Texas Health Science Center

    Houston, Texas 77030
    United States

    Site Not Available

  • University of Texas

    San Antonio, Texas 78249
    United States

    Site Not Available

  • University of Utah

    Salt Lake City, Utah 84112
    United States

    Active - Recruiting

  • University of Washington

    Seattle, Washington 98195
    United States

    Active - Recruiting

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