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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    Page 1 of 1 (2 locations)

    1

    Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

    2

    Hospital Universitario de la Princesa, Madrid

    Madrid, Spain