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NCT06938100
Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
Conditions: CADASIL, CADASIL (Diagnosis)
Sex: All
Ages: 18 Years – N/A
Healthy volunteers: Yes
Enrollment: 100
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Location: Fondazione IRCCS Istituto Neurologico Carlo Besta Milan
Summary
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.
Eligibility Criteria
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.
Source: ClinicalTrials.gov (NCT06938100). StuddyBuddy aggregates publicly available trial information.
