Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
Recruiting
Observational Study
CADASIL
CADASIL (Diagnosis)
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Other
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About This Trial
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.
Trial Locations
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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 …
Contacts