Status:
RECRUITING
Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
Lead Sponsor:
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Conditions:
CADASIL
CADASIL (Diagnosis)
Eligibility:
All Genders
18+ years
Brief 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 ris...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
November 21 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
October 31 2027
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT06938100
Start Date
November 21 2023
End Date
October 31 2027
Last Update
April 22 2025
Active Locations (2)
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1
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy
2
Hospital Universitario de la Princesa, Madrid
Madrid, Spain