NCT06938100 · RECRUITING
Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
This study is following people with CADASIL, a rare inherited disease that damages small blood vessels in the brain and is caused by mutations in the NOTCH3 gene. Researchers want to understand how symptoms, brain imaging findings, and genetic differences relate to each other over time. There is no drug or treatment being tested here — it is an observational study, meaning researchers are watching and recording, not intervening.
You may qualify if
- 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
You're excluded if
- 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.
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2025-04-22