Registry for CADASIL patients and their relatives
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study
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 |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 18 Years to 85 Years |
| Sex | All |
| Sponsor | First Affiliated Hospital of Fujian Medical University Academic / other |
| Locations | 1 site (Fuzhou, Fujian) |
| Trial ID | NCT04310098 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients with serious systemic illnesses or major mental health issues may not benefit from this study.
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 performed: 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.
Eligibility criteria
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 this trial is running
Fuzhou, Fujian
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.