Understanding CADASIL and its effects on cognitive impairment
Unraveling the Early Phases of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
This study is trying to understand how CADASIL affects thinking and memory over time in people with a family history of the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 660 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of Wisconsin, Madison Academic / other |
| Locations | 12 sites (Los Angeles, California and 11 other locations) |
| Trial ID | NCT05677880 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the risk factors and progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a leading cause of vascular cognitive impairment and dementia. A total of 575 participants with a family history of CADASIL will be enrolled and monitored over a period of up to 5 years. Participants will undergo clinical interviews, neurological exams, neurocognitive assessments, MRI scans, and blood draws during three in-person visits, along with additional remote follow-ups. The study seeks to identify early changes in biological markers and neuroimaging associated with CADASIL and its impact on cognitive health.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 and older with a positive NOTCH3 genetic test or those at risk for CADASIL.
Not a fit: Patients without a family history of CADASIL or those who do not meet the genetic testing criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of CADASIL, potentially enhancing patient care and outcomes for those affected by vascular cognitive impairment.
How similar studies have performed: Other studies have shown success in understanding vascular dementia through genetic and observational approaches, making this study a continuation of established research.
Eligibility criteria
Show full inclusion / exclusion criteria
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 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 Inclusion Criteria for Healthy Controls (HC): 1\. Must meet same criteria as CADASIL participants, EXCEPT have negative NOTCH3 genetic testing Exclusion Criteria: 1. History of severe learning disability, intellectual disability, or other neurological 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
Where this trial is running
Los Angeles, California and 11 other locations
- University of California — Los Angeles, California, United States (Recruiting)
- University of California — San Francisco, California, United States (Recruiting)
- University of Colorado — Denver, Colorado, United States (Recruiting)
- Georgia State University Research Foundation — Atlanta, Georgia, United States (Recruiting)
- Loyola University — Chicago, Illinois, United States (Recruiting)
- Columbia University — New York, New York, United States (Recruiting)
- Oregon Health & Science University — Portland, Oregon, United States (Recruiting)
- Brown University — Providence, Rhode Island, United States (Recruiting)
- University of Texas Health Science Center — Houston, Texas, United States (Not_yet_recruiting)
- University of Texas — San Antonio, Texas, United States (Not_yet_recruiting)
- University of Utah — Salt Lake City, Utah, United States (Recruiting)
- University of Washington — Seattle, Washington, United States (Recruiting)
Study contacts
- Principal investigator: Jane S Paulsen, PhD — University of Wisconsin, Madison
- Study coordinator: Cadasil Consortium
- Email: info@cadasil-consortium.org
- Phone: 1-833-795-3016
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.