Analyzing genetic and imaging features in CADASIL patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This project aims to analyze both retrospective and prospective data from CADASIL patients to understand the natural history of the disease. By correlating clinical symptoms with genetic risk factors and specific neuroradiological and biological markers, the study seeks to stratify patients based on their disease risk. This approach could lead to the identification of personalized therapeutic targets for CADASIL. The study will include patients with confirmed NOTCH3 mutations or characteristic deposits found in skin biopsies.

Why it matters

Who can join: the full rules

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.

Where it's running

• Fondazione IRCCS Istituto Neurologico Carlo Besta
  Milan, Italy Recruiting
• Hospital Universitario de la Princesa, Madrid
  Madrid, Spain Not yet recruiting

Study contacts

• Study coordinator: Anna Bersano, MD
• Email: anna.bersano@istituto-besta.it
• Phone: + 39 02.2394

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Long-term follow-up of Korean CADASIL patients

  This 10-year project will track symptoms, brain scans, cognitive tests, and genetic data in about 500 Korean adults with CADASIL to see how the disease progresses.

  Recruiting Jeju National University Hospital · Jeju City, Jeju-do · NCT07497867

• Establishing an Australian cohort of CADASIL patients

  This study is trying to gather information from Australian patients with CADASIL to better understand how the condition affects them over time.

  Recruiting at 4 sites The University of New South Wales · Newcastle, New South Wales and 4 other locations · NCT06148051

• Understanding the prognosis of cerebral small vessel disease

  This study looks at how different types of cerebral small vessel disease affect the health and future outcomes of patients, including issues like bleeding in the brain and memory problems.

  Recruiting Insel Gruppe AG, University Hospital Bern · Bern · NCT05734378

• Understanding CADASIL and its effects on cognitive impairment

  This study is trying to understand how CADASIL affects thinking and memory over time in people with a family history of the condition.

  Recruiting at 10 sites University of Wisconsin, Madison · Los Angeles, California and 11 other locations · NCT05677880

• Investigating genetic and non-genetic factors in small vessel disease

  This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.

  Recruiting National Taiwan University Hospital · Taipei · NCT05473637

• Registry for CADASIL patients and their relatives

  This study is trying to learn more about CADASIL and how it affects patients and their families to improve care and understanding of the condition.

  Recruiting First Affiliated Hospital of Fujian Medical University · Fuzhou, Fujian · NCT04310098

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.