Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL

Launched by FONDAZIONE I.R.C.C.S. ISTITUTO NEUROLOGICO CARLO BESTA · Apr 14, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on studying a condition called CADASIL, which affects the brain's blood vessels and can lead to problems like strokes and cognitive issues. Researchers want to learn more about how this disease progresses by looking at patients' symptoms, their genetic information, and brain imaging results. By understanding these factors better, they hope to find personalized treatment options that could help manage the disease for different patients.

To participate in this study, individuals must be at least 18 years old and have a specific genetic mutation linked to CADASIL, or show certain signs of the disease through a skin biopsy. Unfortunately, those who cannot give consent due to severe communication or cognitive difficulties, or who have passed away without family consent, cannot join the study. If eligible, participants will contribute to important research that may lead to better understanding and treatment of CADASIL, and their involvement could be crucial for future patients facing this condition.

Gender

ALL

Eligibility 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.