Analyzing genetic and imaging features in CADASIL patients
Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
This study is trying to see how genetic and brain imaging information can help doctors better understand and treat CADASIL in patients with specific genetic markers.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Academic / other |
| Locations | 2 sites (Milan and 1 other locations) |
| Trial ID | NCT06938100 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are adults over 18 years old with a pathogenic NOTCH3 mutation or characteristic deposits indicative of CADASIL.
Not a fit: Patients who do not meet the diagnostic criteria for CADASIL or are unable to provide consent due to cognitive impairment will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more personalized treatment options for patients with CADASIL.
How similar studies have performed: Other studies have shown promise in correlating genetic markers with clinical outcomes in similar conditions, suggesting potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Milan and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.