Clinical trial Recruiting at 1 site Observational Ages 18 to 85

Registry for CADASIL patients and their relatives

Official title: Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study

Run by First Affiliated Hospital of Fujian Medical University · NCT04310098 · Data updated 2026-11-12

This study is trying to learn more about CADASIL and how it affects patients and their families to improve care and understanding of the condition.

Quick facts

Study typeObservational
Ages18 Years to 85 Years
SexAll
Enrollment1000 (estimated)
SponsorFirst Affiliated Hospital of Fujian Medical University
Academic / other
Locations1 site (Fuzhou, Fujian)
StatusRecruiting
StartedMarch 9, 2020
Main results expectedMarch 9, 2039
Study endsMarch 9, 2049
Registry record updatedSeptember 28, 2023
Trial IDNCT04310098 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include adults over 18 with a clinical diagnosis of CADASIL confirmed by genetic testing or skin biopsy, asymptomatic NOTCH3 mutation carriers, and relatives of CADASIL patients.

Probably not a fit

Patients with serious systemic illnesses or major mental health issues may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to explore the clinical spectrum and natural progression of CADASIL, a genetic disorder affecting blood vessels in the brain. It will involve a multicenter approach to assess the clinical, genetic, and epigenetic characteristics of individuals diagnosed with CADASIL, as well as asymptomatic carriers and their relatives. The goal is to enhance clinical management and understanding of the disease through comprehensive data collection and analysis.

Why it matters

Potential benefit: If successful, this study could lead to improved clinical management and outcomes for patients with CADASIL.

How similar studies have gone: While there have been studies on CADASIL, this registry approach is relatively novel in its comprehensive data collection and focus on both symptomatic and asymptomatic individuals.

Who can join: the full rules

Show full inclusion / exclusion criteria
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

Where it's running

  • Department of Neurology , First Affiliated Hospital Fujian Medical University
    Fuzhou, Fujian, China
    Recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

  • Long-term follow-up of Korean CADASIL patients

    This 10-year project will track symptoms, brain scans, cognitive tests, and genetic data in about 500 Korean adults with CADASIL to see how the disease progresses.

    Recruiting Jeju National University Hospital · Jeju City, Jeju-do · NCT07497867

  • Analyzing genetic and imaging features in CADASIL patients

    This study is trying to see how genetic and brain imaging information can help doctors better understand and treat CADASIL in patients with specific genetic markers.

    Recruiting Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Milan and 1 other locations · NCT06938100

  • Establishing an Australian cohort of CADASIL patients

    This study is trying to gather information from Australian patients with CADASIL to better understand how the condition affects them over time.

    Recruiting at 4 sites The University of New South Wales · Newcastle, New South Wales and 4 other locations · NCT06148051

  • Understanding the prognosis of cerebral small vessel disease

    This study looks at how different types of cerebral small vessel disease affect the health and future outcomes of patients, including issues like bleeding in the brain and memory problems.

    Recruiting Insel Gruppe AG, University Hospital Bern · Bern · NCT05734378

  • Understanding CADASIL and its effects on cognitive impairment

    This study is trying to understand how CADASIL affects thinking and memory over time in people with a family history of the condition.

    Recruiting at 10 sites University of Wisconsin, Madison · Los Angeles, California and 11 other locations · NCT05677880

  • Investigating genetic and non-genetic factors in small vessel disease

    This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.

    Recruiting National Taiwan University Hospital · Taipei · NCT05473637

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.