Actively Recruiting

Age: 18Years +
All Genders
Healthy Volunteers
NCT06938100

Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL

Led by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Updated on 2025-04-22

100

Participants Needed

2

Research Sites

205 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL

Who Can Participate

Age: 18Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients of either sex older than 18 years of age
  • Presence of a pathogenic mutation on genetic analysis of NOTCH3
  • If no clear mutation, presence of characteristic deposits (GOM) within small vessels at skin biopsy
Not Eligible

You will not qualify if you...

  • Do not meet the diagnostic criteria of CADASIL
  • Unable to give consent due to aphasic or cognitive impairment
  • Deceased at enrollment and next of kin refuse consent for participation

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 2 locations

1

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

Actively Recruiting

2

Hospital Universitario de la Princesa, Madrid

Madrid, Spain

Not Yet Recruiting

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Research Team

A

Anna Bersano, MD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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