Actively Recruiting
The FAME Study: A Family-Based Cohort Study on Moyamoya Disease Susceptibility and Early Screening
Led by Beijing Tiantan Hospital · Updated on 2026-04-08
700
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating moyamoya disease (MMD), a progressive blood vessel disorder in the brain that has a genetic component but is not fully explained by genetics alone. This study aims to find early biological and imaging markers to detect high-risk individuals before symptoms appear. The research will compare patients with MMD, their first-degree relatives, and healthy controls to better understand susceptibility and improve early screening strategies. The study will enroll 700 participants in three groups: 400 with MMD, 200 first-degree relatives without clinical disease, and 100 healthy controls. At the start, all participants will provide clinical data and undergo 5T high-resolution MRI and biospecimen collection including blood, urine, stool, saliva, and nasal swabs. Patients undergoing surgery may also provide tissue samples. First-degree relatives and patients will be followed annually for 3 years, mainly by phone or online questionnaires, with optional repeat MRI. Participants will have neurological assessments, laboratory tests, and lifestyle data collected. Researchers will monitor for new MMD cases in relatives and disease progression in patients, including strokes and functional outcomes. The goal is to identify markers associated with disease onset and progression by analyzing clinical, imaging, and biospecimen data. This information will help develop an early warning system for those at risk. The total participation time is about 3 years per person.
CONDITIONS
Brief Title
Family-Based Moyamoya Susceptibility and Early Detection
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with primary moyamoya disease according to standard criteria, including new or previous diagnosis, with typical imaging findings
- First-degree blood relative (parent, child, sibling) of a patient with moyamoya disease, without clinical diagnosis or history of stroke or cerebrovascular events, and no definite moyamoya disease on baseline MRI
- Healthy individuals without family history of moyamoya disease or personal cerebrovascular disease, with no major abnormalities on screening; age and sex matched to patient group
You will not qualify if you...
- Major systemic or central nervous system diseases that may affect study results, such as advanced cancer, serious infections, active lupus, or severe liver/kidney problems
- Atypical cerebrovascular lesions on baseline imaging like widespread atherosclerosis or congenital malformations
- Unable to complete exams or follow-up, including MRI contraindications (e.g., metal implants, severe claustrophobia), relocation, poor communication, or poor adherence
- Pregnant women
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - At enrollment
Participants undergo baseline clinical assessments, routine laboratory testing, and 5T high-resolution MRI to evaluate moyamoya disease susceptibility and establish a baseline for follow-up comparisons.
1 baseline visit (in-person)
Duration - 3 years
Participants in the patient and first-degree relative groups are followed annually for 3 years to monitor disease progression, new diagnoses, symptoms, and other health changes mainly through telephone or online questionnaires, with optional repeat 5T MRI for willing participants.
Annual follow-up visits mainly by telephone or online; optional in-person MRI visits
Trial Site Locations
Total: 1 location
1
Beijing Hospital
Beijing, Beijing Municipality, China, 100730
Actively Recruiting
Research Team
D
Dong Zhang, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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