Scientists launch Decade-Long quest to unravel rare stroke disorder
NCT ID NCT05072483
First seen Jun 24, 2026 · Last updated Sep 16, 2026 · Updated 12 times
Summary
This study follows 155 adults with CADASIL, a genetic condition that narrows small blood vessels and raises the risk of strokes and dementia, over nine years. Researchers will use brain scans, blood tests, and other exams to track how the disease changes blood vessels and thinking abilities. Healthy volunteers also participate for comparison. The goal is to better understand the disease's progression, not to test a new treatment.
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 how CADASIL progresses, pointing toward future treatments or ways to monitor the disease.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly benefit participants and may not lead to immediate therapies.
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
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About 155 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Apr 2022
- Expected to finish
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Jun 2041
An estimate. End dates often move.
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
We will follow up to 110 subjects in order to have 100 subjects with CADASIL (at least 80 new CADASIL subjects and up to 20 CADASIL subjects previously enrolled in our pilot study, if they would like to participate in this study as well) and up to 45 healthy controls with the goal of 40 healthy control subjects completing the study, withtotal accrual of 155 male and female, ages 18-100. Should anyone from the original patient cohort decide not to participate in this new study, additional patients will be recruited in order to meet our goal of having 100 CADASIL subjects enrolled in the study.
- Ages
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18 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide 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: Eligibility for this study may be determined based on information collected under other NHLBI-approved protocols, outside records and patient report. In order to be eligible to participate in this study, an individual must meet criteria 1 \& 2 and either criteria 3 or 4: 1. Stated willingness to comply with all study procedures and availability for the duration of the study. 2. Male or female, aged 18 to 100 years (inclusive). 3. Established diagnosis of CADASIL or NOTCH3 mutations, as determined by genetic testing. 4. Healthy controls. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: 1. Pregnancy at time of consent. 2. Subjects who lack capacity to consent and don't have a legally authorized representative. 3. Subjects who decline to provide samples for blood and/or tissue studies. 4. Subjects who do not speak English. 5. Subjects whose scans or examinations show unexpected brain conditions (outside of CADASIL) which would interfere with interpretation of testing. 6. Subjects unable to undergo an MRI scan or subjects meeting the following criteria: * Subjects who have internal non-MRI compatible metals (i.e., cardiac pacemaker, brain stimulator, shrapnel, surgical metal, clips in the brain or on blood vessels, cochlear implants, artificial heart valves or metal fragments in the eye) as these rendering an MRI unsafe * Subjects with ferromagnetic dental bridges or crowns (exclusion only for 7.0T) * Subjects unable to remain supine for the expected length of the MRI (i.e., up to 1 hour) * Subjects with uncontrolled head movements * Subjects who are claustrophobic for the expected length of the MRI (i.e., up to 1 hour) and claustrophobia cannot be controlled with anti-anxiety medication.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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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
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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