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 type | Observational |
|---|---|
| Ages | 18 Years to 85 Years |
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | First Affiliated Hospital of Fujian Medical University Academic / other |
| Locations | 1 site (Fuzhou, Fujian) |
| Status | Recruiting |
| Started | March 9, 2020 |
| Main results expected | March 9, 2039 |
| Study ends | March 9, 2049 |
| Registry record updated | September 28, 2023 |
| Trial ID | NCT04310098 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
- Study coordinator: Lin Yi, PhD
- Email: caibin929@163.com
- Phone: 13615039153
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.
-
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.
-
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.
-
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.
-
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.
-
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.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.