Can brain scans and genes predict CADASIL's course?
NCT ID NCT06938100
First seen Aug 31, 2026 · Last updated Sep 01, 2026 · Updated 1 time
Summary
This study looks at 100 adults with CADASIL, a genetic condition that affects small blood vessels in the brain and can lead to strokes and thinking problems. Researchers will collect genetic data, symptoms, and brain MRI images to see how these factors relate. The goal is to better understand the disease's natural history and find markers that could guide personalized care.
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 this study succeeds, it could help doctors predict how CADASIL will progress in each person and point toward personalized treatments.
- What could go wrong
- This is an observational study, so it will not test any treatment. It may not find clear links between genes, symptoms, and brain changes, and the results may not apply to all CADASIL patients.
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 100 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Nov 2023
- Expected to finish
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Oct 2027
An estimate. End dates often move.
- Lead sponsor
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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
All patients diagnosed with genetically confirmed CADASIL and followed in the Cerebrovascular Diseases Outpatient Clinic of Neurology Unit 9 from 2008 to 2023 will be enrolled in the study.
- Ages
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18 years and older
- 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: * patients of either sex older than 18 years of age; * finding of a pathogenic mutation on genetic analysis of NOTCH3; * in the absence of unambiguous mutation, presence of characteristic deposits (GOM) within small vessels at skin biopsy Exclusion criteria: * do not meet the diagnostic criteria of CADASIL; * are unable to give consent for the study due to aphasic or cognitive impairment or because they are deceased at the time of enrollment and their next of kin refuse to give consent for study participation.
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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
2 sites in 2 countries. 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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Fondazione IRCCS Istituto Neurologico Carlo Besta
RECRUITINGMilan, Italy
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Hospital Universitario de la Princesa, Madrid
NOT_YET_RECRUITINGMadrid, Spain
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