About this trial
The aim of this study is to determine the clinical spectrum and natural progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and related disorders in a prospective multicenter study, to assess the clinical, genetic and epigenetic features of patients with CADASIL , to optimize clinical management.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Sign informed consent.
Age>18
Clinical diagnosis of patients with CADASIL,and confirmed by genetic test or skin biopsy
Asymptomatic NOTCH3 mutation carriers
Disqualifiers
Unable to cooperate with inspectors
Serious systemic illness, such as heart, liver, kidney disease or major mental illness
Contraindications for imaging examination
Trial population
Patients diagnosed in hosipital and their's family
Trial design
Cohort
Prospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
Overall outcomes in CADASIL patients
record the occurrence of stroke and use modified Rankin Scale (mRS) to measure the degree of disability or dependence in the daily activities of people who have suffered a stroke or other causes of neurological disability.
Secondary outcomes
The correlation of genotype and phenotype
Genotype is defined by NOTCH3 pathogenic variant position and phenotype is defined by clinical types and characteristics.
Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Bin Cai
Lead sponsor
First Affiliated Hospital of Fujian Medical University
Sponsor institution