Understanding CADASIL and its effects on cognitive impairment

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Long-term follow-up of Korean CADASIL patients

  This 10-year project will track symptoms, brain scans, cognitive tests, and genetic data in about 500 Korean adults with CADASIL to see how the disease progresses.

  Recruiting Jeju National University Hospital · Jeju City, Jeju-do · NCT07497867

• Analyzing genetic and imaging features in CADASIL patients

  This study is trying to see how genetic and brain imaging information can help doctors better understand and treat CADASIL in patients with specific genetic markers.

  Recruiting Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Milan and 1 other locations · NCT06938100

• Establishing an Australian cohort of CADASIL patients

  This study is trying to gather information from Australian patients with CADASIL to better understand how the condition affects them over time.

  Recruiting at 4 sites The University of New South Wales · Newcastle, New South Wales and 4 other locations · NCT06148051

• Understanding the prognosis of cerebral small vessel disease

  This study looks at how different types of cerebral small vessel disease affect the health and future outcomes of patients, including issues like bleeding in the brain and memory problems.

  Recruiting Insel Gruppe AG, University Hospital Bern · Bern · NCT05734378

• Investigating genetic and non-genetic factors in small vessel disease

  This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.

  Recruiting National Taiwan University Hospital · Taipei · NCT05473637

• Registry for CADASIL patients and their relatives

  This study is trying to learn more about CADASIL and how it affects patients and their families to improve care and understanding of the condition.

  Recruiting First Affiliated Hospital of Fujian Medical University · Fuzhou, Fujian · NCT04310098

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.