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Scientists launch major effort to unlock secrets of rare brain disease CADASIL

NCT ID NCT05677880

Knowledge-focused Sponsor: University of Wisconsin, Madison Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 660 adults with CADASIL, a genetic condition that causes strokes and dementia, for up to 5 years. Researchers will use brain scans, memory tests, and blood samples to track how the disease progresses from its earliest stages. The goal is to identify factors that influence disease onset and severity, which could help develop future treatments.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could reveal early markers and risk factors for CADASIL, pointing toward ways to slow or predict the disease.
What could go wrong
This is an observational study, not a treatment trial. It may not lead to any direct therapy, and results may take years to translate into clinical practice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 660 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2022

Expected to finish

Aug 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The study will enroll a total of 500 participants with a CADASIL family history who have had a genetic test for a NOTCH3 variant. All ethnicities, sexes and ages throughout the adult lifespan will be recruited. CADASIL research participants will be recruited across the earlier part of the disease spectrum from pre-symptomatic (no symptoms or signs) through the prodromal phase (having symptoms and signs without significant functional decline) to varying levels of early dementia or mild to moderate functional impairment.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cognitive Dysfunction dementia Nerve Degeneration vascular dementia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Cadasil

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    12 sites. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • Brown University

    RECRUITING

    Providence, Rhode Island, 02912, United States

  • Columbia University

    RECRUITING

    New York, New York, 10027, United States

  • Georgia State University Research Foundation

    RECRUITING

    Atlanta, Georgia, 30303, United States

  • Loyola University

    RECRUITING

    Chicago, Illinois, 60660, United States

  • Oregon Health & Science University

    RECRUITING

    Portland, Oregon, 97239, United States

  • University of California

    RECRUITING

    Los Angeles, California, 90095, United States

  • University of California

    RECRUITING

    San Francisco, California, 94143, United States

  • University of Colorado

    RECRUITING

    Denver, Colorado, 80204, United States

  • University of Texas

    NOT_YET_RECRUITING

    San Antonio, Texas, 78249, United States

  • University of Texas Health Science Center

    NOT_YET_RECRUITING

    Houston, Texas, 77030, United States

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84112, United States

  • University of Washington

    RECRUITING

    Seattle, Washington, 98195, United States

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