Cadasil
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Bin Cai
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 85 Years
Healthy volunteers
Yes
Inclusion criteria
1. Sign informed consent. 2. Age\>18 3. Clinical diagnosis of patients with CADASIL,and confirmed by genetic test or skin biopsy 4. Asymptomatic NOTCH3 mutation carriers 5. Relatives of CADASIL patients or carriers 6. Unrelated healthy controls
Exclusion criteria
1. Unable to cooperate with inspectors 2. Serious systemic illness, such as heart, liver, kidney disease or major mental illness 3. Contraindications for imaging examination
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Overall outcomes in CADASIL patients | From date of enrollment until the date of death from any cause, assessed up to 20years | 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
| Measure | Time frame | Description |
|---|---|---|
| The correlation of genotype and phenotype | From date of enrollment until the date of death from any cause, assessed up to 20years | Genotype is defined by NOTCH3 pathogenic variant position and phenotype is defined by clinical types and characteristics. |
Countries
China
Contacts
Primary ContactLin Yi, PhD
Backup ContactCai Bin, PhD
Outcome results
None listed