Who Are We?
The CADASIL Consortium is a group of 12 study sites across the United States striving to identify the biological and clinical markers in order to inform basic science research and clinical care with the hope of generating information that can be used to design treatment studies. Our coordinating center is the University of Wisconsin, Madison but individuals can be seen at any of our 12 sites.
Our research team is dedicated to finding ways to intervene in the CADASIL trajectory and to study interactions with risk factors impacting the aging life course. We are actively seeking persons who were at risk but tested negative (non-carriers of the NOTCH3 gene mutation) as well as those who have tested positive in order to characterize the presentation of CADASIL with family members.
What is CADASIL?
CADASIL is a rare genetic disease that primarily affects small blood vessels in the brain. It is the most common cause of vascular dementia.
How do I know if I can participate?
1. At least 18 years old
2. Family history of CADASIL with a positive or negative test, or a willingness to get tested
3. Willing to complete a blood draw and MRI at each visit
4. Have a companion who is willing to participate
What is a study visit like?
Study visits consist of:
- MRI scan
- Cognitive testing
- Neurological exam
- Interview about mental and physical health
- Blood draw
About us
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Do I have to have a positive CADASIL blood test to participate?
Participants in this study must be 18 years-old and may or may not have a NOTCH3 gene mutation that causes CADASIL.
Will the study test my blood for CADASIL if I have a family history?
The study has a process to allow genetic counseling and testing for a limited number of participants.
What if I don't want to know if I have CADASIL?
Participants retain their rights to learn their NOTCH3 results or not. Participants who do not wish to learn their gene status after testing will not be excluded from participation.
What expenses are covered by the study?
There is no cost to participants for study activities or procedures. Participants will be eligible to receive partial or complete reimbursements for study related travel costs such as travel expenses and subsistence costs.
How long will I be at the study site?
The in-person assessments include questionnaires, neurological examination, cognitive testing, brain MRI, and blood draw. Additional contact will occur by phone, mail, email, or internet and will be referred to as “remote visits”.
Will all of my test results be sent to my doctor? Will I get the results of my MRI?
You and your doctors will not be told the results of the research tests with the exception of the genetic results from InformedDNA. If you chose to learn the results of that test, you may share it with your doctor and others.
The MRI scan for this study is for research purposes only, it will not be reviewed by a radiologist involved in your health care and the results will not be shared with you.
Does this study offer treatment?
This is not a treatment study. It is a study to develop the best methods for future clinical care and clinical trials for experimental treatments. Researchers will use the information and samples to prepare data for review by the Critical Path Institute in concert with the Food and Drug Administration so future treatments can be delivered to persons with the CADASIL gene at the best time possible.
Where can I be seen for a study visit?
Individuals can be seen at any of the 12 sites currently available across the United States.
Why should I join this study?
Observational studies are an essential first step in learning more about disease progression and the development of new treatments. By participating you are helping to advance scientific knowledge that will be beneficial to future individuals with CADASIL.
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