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

Launched by UNIVERSITY OF WISCONSIN, MADISON · Dec 28, 2022

Keywords

ClinConnect Summary

The CADASIL Study is an observational research project aimed at understanding CADASIL, a condition that can lead to memory problems and dementia. The study will involve 500 participants who may be at risk for or diagnosed with CADASIL. It will take place over a period of up to five years, during which participants will attend three in-person visits and may have additional remote check-ins. To be eligible, participants need to be at least 18 years old and have a positive genetic test for CADASIL or a skin biopsy result, or be willing to undergo genetic testing. They also need to have a designated "study companion" who can help provide information about their health.

Throughout the study, participants will have MRI scans and blood tests during their visits, and they will be asked to share details about their current medications. This information will help researchers understand how CADASIL progresses and how different medications might affect it. Overall, the CADASIL Study aims to improve knowledge about this condition, which could lead to better treatments in the future.

Gender

ALL

Eligibility 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