CADASIL Registry Study

Bin Cai

Status: Enrolling

Conditions: Cadasil

Study type: Observational

Funder types: Other

Identifiers

NCT04310098

MRCTA,ECFAH of FMU [2019]244-1

Details and patient eligibility

About

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.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 18 to 85 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

1,000 participants in 4 patient groups

CADASIL patients

Asymptomatic carriers of CADASIL

Relatives of CADASIL patients and carriers

Unrelated healthy controls