Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorFondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Source ClinicalTrials.gov