Actively Recruiting

Age: 18Years +
All Genders
Healthy Volunteers
ID06938100

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

26 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying CADASIL, a genetic condition affecting small blood vessels in the brain. This observational study aims to understand the natural history of CADASIL by examining how symptoms relate to genetic risks, brain imaging, and biological markers. By sorting patients based on their disease risk, the study hopes to help find personalized treatment targets. The study includes both retrospective and prospective analysis of CADASIL patients. No specific treatments or interventions are provided as it is an observational study. The research focuses on assessing clinical features, genetic factors, and neuroradiological abnormalities over time. Participants will undergo evaluations to deepen understanding of their clinical and brain imaging features over 24 to 30 months. Researchers will identify risk factors that might be reversible to slow disease progression. The study includes genetic testing, biological and imaging markers, with data collected at intervals up to 30 months to monitor disease characteristics and progression.

CONDITIONS

Brief 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 any sex aged 18 years or older
  • Confirmed pathogenic mutation in the NOTCH3 gene by genetic analysis
  • If no clear mutation, presence of characteristic GOM deposits in small vessels from skin biopsy
Not Eligible

You will not qualify if you...

  • Do not meet diagnostic criteria for CADASIL
  • Unable to give consent due to speech or cognitive impairment
  • Deceased before 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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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Long-term Monitoring

Duration - Up to 30 months

Participants with CADASIL are observed to collect clinical, genetic, biological, and neuroradiological data over time.

Regular visits over 30 months

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

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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Published Research Related To This Trial

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.

Julie W Rutten, Bastian J Van Eijsden, Marco Duering...

https://pubmed.ncbi.nlm.nih.gov/30032161