CADASIL Registry Study

Recruiting

• Conditions: Cadasil

• Registration Number: NCT04310098
• Lead Sponsor: Bin Cai

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-03-09
• Study First Submitted: 2020-03-14
• Study First Submitted QC: 2020-03-14
• Study First Posted: 2020-03-17
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-26
• Last Update Posted: 2023-09-28
• Primary Completion: 2039-03-09
• Study Completion: 2049-03-09

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Department of Neurology , First Affiliated Hospital Fujian Medical University; 🇨🇳 Fuzhou, Fujian, China