Observational Study for CADASIL
This is an observational study for Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL), a genetic condition that can lead to memory and thinking problems. The study aims to better understand how CADASIL progresses and its risk factors. You may be able to join if you are at least 18 years old and have a positive NOTCH3 genetic test, a positive skin biopsy, or are willing to get a NOTCH3 genetic test and are at risk for or diagnosed with CADASIL. The study will look at changes in your thinking abilities and brain volume over 36 months to see how the condition progresses. The current recruitment status is unclear.
- Study design
- This is an observational study planning to enroll 660 participants to understand CADASIL progression.
- What's involved
- You would have three in-person visits over 36 months, including neurocognitive tests, clinical interviews, neurological exams, MRI scans, and blood draws. You may also have additional contact by phone, mail, email, or internet.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for 36 months, with primary endpoints measured at baseline and 36 months.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study
At a glance
Conditions
Where it's being run
12 sites across 10 statesStudy leadership
- Jane S Paulsen, PhD · PRINCIPAL_INVESTIGATOR · University of Wisconsin, Madison
- Michael D Geschwind, MD · PRINCIPAL_INVESTIGATOR · University of California, San Francisco
Who to contact
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What this trial measures
- Performance Measured by Change in Cognitive Executive Function Composite Z-Scorebaseline and 36 months
A composite Cognitive Executive Function Score will be reported based on data from two electronic assessments (Favorites and Match). Favorites tests both episodic and associative memory and consists of 2 learning trials followed by an immediate recall trial, 10 minute delayed recall, and delayed recognition trials. The Match assessment tests the processing speed and executive functions. The primary performance metric is the total correct score in 2 minutes. Scores are reported on a continuous scale with greater values indicating better performance. Demographically adjusted regression based z score for Favorites Total Recall and Match Total Correct are calculated to produce the composite score.
- Change in total brain volume between baseline and 36 monthsbaseline and 36 months
MRI structural integrity is measured using available analytic packages as well as newly validated outcome measures from the investigator's imaging core. MRI outcomes will reflect changes in the total brain volume from two time points. Less volumes will reflect greater brain loss and greater change over time will suggest a more rapid rate of progression.
- Change in total cerebral spinal volume between baseline and 36 monthsbaseline and 36 months
MRI structural integrity is measured using available analytic packages as well as newly validated outcome measures from the investigator's imaging core. MRI outcomes will reflect changes in the total cerebral spinal fluid volume from two time points. Less volumes will reflect greater brain loss and greater change over time will suggest a more rapid rate of progression.
- Percent change in brain connectivity from baseline to 36 monthsbaseline and 36 months
MRI functional integrity is measured using available analytic packages as well as newly validated outcome measures from the investigator's imaging core. MRI outcomes will reflect the strength of connectivity among different areas of the brain. Levels of connectivity will be associated with cognitive performances. Greater connectivity is associated with better cognition.
- Change in Neurofilament Light (Nfl)baseline and 36 months
Blood will be analyzed using validated assays to measure the amount of NfL. Greater levels of NfL reflect worsened brain atrophy and change over time will demonstrate worsening over time.
- Change in World Health Organization Disability Assessment Schedule (WHODAS) Scorebaseline and 36 months
Functional capacity is assessed using the WHODAS instrument. The measure consists of 12 items and allows responses on a 5-point scale for each item, the total possible range of scores is converted to 0-100 where 0 is no disability and 100 is full disability. The change in total WHODAS score from baseline to 36 months will show the rate of progression in loss of capacity.
- Change in CADASIL Severity Scorebaseline and 36 months
CADASIL severity is determined using established disease-specific scales involving the frequency, severity, and duration of clinical signs and symptoms of CADASIL. The CADASIL scale is a 12-item scale of CADASIL symptoms and signs. Each item is given a weighted score according to a large sample of patients in Europe. A summary of all items is the total CADASIL score which can range from 0-25. Higher scores represent greater CADASIL severity. Change in total score from baseline to 36 months is used to measure the rate of symptomatic worsening or improvements over time.