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NIH launches study to unravel mysteries of rare genetic brain disease CADASIL

NCT ID NCT02821780

Completed Knowledge-focused Sponsor: National Heart, Lung, and Blood Institute (NHLBI) Source: ClinicalTrials.gov ↗

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

Summary

This study looked at 20 people with CADASIL, a rare genetic disease that damages brain arteries and causes migraines, strokes, and dementia. Researchers used blood tests, skin biopsies, eye exams, and brain scans to learn more about how the disease works. The goal was to better understand CADASIL, 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 help researchers better understand how CADASIL progresses, potentially pointing toward future treatments.

What could go wrong

This is a small, observational study with only 20 participants. It is not testing any treatment, so it will not directly lead to a cure or therapy.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

cardiovascular disorder cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 stroke disorder

As listed by the trial registrant

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

ARTERIAL STIFFNESS CARDIOVASCULAR DISEASE CLINICAL PHENOTYPE OF CADASIL GERMLINE MUTATION IN THE NOTCH 3 GENE PATHOGENESIS OF CADASIL

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

  • Nationwide Children s Hospital

    Columbus, Ohio, 43205, United States