CADASIL Registry Study

ConditionCadasil
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-85
SponsorBin Cai

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 volunteers

Qualifiers

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

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

1,000 Participants
are grouped into 4 trial groups
Group A: CADASIL patients
Group B: Asymptomatic carriers of CADASIL
Group C: Relatives of CADASIL patients and carriers
Group D: Unrelated healthy controls

Trial outcomes

Primary outcomes

1

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.

Time frame
From date of enrollment until the date of death from any cause, assessed up to 20years

Secondary outcomes

1

The correlation of genotype and phenotype

Genotype is defined by NOTCH3 pathogenic variant position and phenotype is defined by clinical types and characteristics.

Time frame
From date of enrollment until the date of death from any cause, assessed up to 20years

Other outcomes

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