Actively Recruiting

Age: 18Years - 85Years
All Genders
Healthy Volunteers
ID04310098

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study

Led by Bin Cai · Updated on 2023-09-28

1000

Participants Needed

1

Research Sites

521 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are conducting a prospective multicenter observational study to understand the clinical spectrum and natural progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and related disorders. The study aims to assess the clinical, genetic, and epigenetic characteristics of patients with CADASIL to help improve clinical management of the condition. Participants include CADASIL patients confirmed by genetic test or skin biopsy, asymptomatic carriers of the NOTCH3 mutation, relatives of affected individuals, and unrelated healthy controls. There are no drug or treatment interventions as this is an observational study focused on gathering data over time. Participants will be followed from enrollment until death or up to 20 years, during which researchers will collect clinical information, genetic data, and imaging results. The primary outcome is overall outcomes in CADASIL patients over this period, while secondary outcomes include correlations between genetic findings and clinical features. Assessments will be conducted periodically as part of routine clinical evaluations.

CONDITIONS

Brief Title

CADASIL Registry Study

Who Can Participate

Age: 18Years - 85Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Signed informed consent
  • Age over 18 years
  • Clinical diagnosis of CADASIL confirmed by genetic test or skin biopsy
  • Asymptomatic carriers of the NOTCH3 mutation
  • Relatives of CADASIL patients or carriers
  • Unrelated healthy controls
Not Eligible

You will not qualify if you...

  • Unable to cooperate with study assessments
  • Serious systemic illness such as heart, liver, kidney disease, or major mental illness
  • Contraindications for imaging examination

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Long-term Monitoring

Duration - Up to 20 years

Participants are observed for overall outcomes and correlation of genotype and phenotype over an extended period.

Visits scheduled as needed for assessments

Trial Site Locations

Total: 1 location

1

Department of Neurology , First Affiliated Hospital Fujian Medical University

Fuzhou, Fujian, China, 350004

Actively Recruiting

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Research Team

L

Lin Yi, PhD

C

Cai Bin, PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

4

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