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Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL

Recruitingn/aAges 18 Years - anyAllFondazione I.R.C.C.S. Istituto Neurologico Carlo …
NCT06938100 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific neuroradiological and biological markers \- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.

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📋 Eligibility rules (as published)
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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What it tests

  • Not listed
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Where

2 sites
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy
Hospital Universitario de la Princesa, Madrid
Madrid, Spain
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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