Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
Status: Recruiting
Location: See all (2) locations...
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:
• 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
Locations
Other Locations
Italy
Fondazione IRCCS Istituto Neurologico Carlo Besta
RECRUITING
Milan
Spain
Hospital Universitario de la Princesa, Madrid
NOT_YET_RECRUITING
Madrid
Contact Information
Primary
Anna Bersano, MD
anna.bersano@istituto-besta.it
+ 39 02.2394
Time Frame
Start Date: 2023-11-21
Estimated Completion Date: 2027-10-31
Participants
Target number of participants: 100
Related Therapeutic Areas
Sponsors
Leads: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta