Family screening and early detection for moyamoya disease

The FAME Study: A Family-Based Cohort Study on Moyamoya Disease Susceptibility and Early Screening

This project will try to find biological signs and 5T high-resolution MRI features that could detect moyamoya earlier in people with the disease, their first-degree relatives, and people without a family history.

Quick facts

• Study type: Observational
• Enrollment: 700 (estimated)
• Sex: All
• Sponsor: Beijing Tiantan Hospital (other)
• Locations: 1 site (Beijing, Beijing Municipality)
• Trial ID: NCT07517354 on ClinicalTrials.gov

What this trial studies

This is a single-center, prospective, family-based observational cohort at Beijing Hospital enrolling 700 participants (400 patients with moyamoya, 200 first-degree relatives, and 100 healthy controls). At baseline participants provide demographic and clinical data, vascular risk factors, neurological assessments, routine labs, biospecimens, and 5T high-resolution MRI, and the relative cohort is followed prospectively for about three years. The study compares affected patients, unaffected relatives, and controls to identify biological and imaging markers linked to susceptibility and early disease. The goal is to find earlier, less invasive markers that could signal increased risk before typical angiographic or symptomatic disease appears.

Who should consider this trial

Good fit: Ideal participants include people diagnosed with primary moyamoya, their first-degree blood relatives without clinical moyamoya or prior stroke, and healthy volunteers without a family history of moyamoya, with no age or sex restrictions.

Not a fit: People without a familial connection to moyamoya or those with advanced, symptomatic disease already requiring established management are less likely to gain direct clinical benefit from this observational effort.

Why it matters

Potential benefit: If successful, this work could enable earlier identification and closer monitoring of high-risk individuals to reduce stroke risk through timely intervention.

How similar studies have performed: Previous genetic and imaging studies (for example RNF213 variant research and vascular imaging work) have suggested susceptibility markers, but prospective family-based early-detection approaches using high-resolution MRI remain largely novel.

Eligibility criteria

Inclusion Criteria:

* Participants must belong to 1 of the following 3 cohorts:

Moyamoya disease cohort: diagnosed with primary moyamoya disease according to standard diagnostic criteria, with progressive stenosis or occlusion at the terminal internal carotid arteries and/or their major branches and typical collateral vessels on DSA, CTA, or MRA; newly diagnosed and previously diagnosed cases are both eligible; no age or sex restriction.

First-degree relative cohort: first-degree blood relatives of patients with moyamoya disease, including parents, children, and siblings; no age or sex restriction; no clinical diagnosis of moyamoya disease and no history of stroke or other cerebrovascular events at enrollment; baseline MRI does not show definite moyamoya disease, although mild changes are allowed.

Healthy control cohort: no family history of moyamoya disease; no personal history of cerebrovascular disease; no major abnormalities on physical examination or baseline screening; age and sex distribution matched as closely as possible to the moyamoya disease cohort.

Exclusion Criteria:

* Major systemic or central nervous system diseases that may interfere with study results or substantially affect survival or adherence, such as advanced malignant tumors, active tuberculosis or other serious infections, active systemic lupus erythematosus, or severe hepatic or renal dysfunction.

Atypical cerebrovascular lesions on baseline imaging, such as widespread atherosclerotic stenosis or congenital vascular malformations.

Inability to complete examinations or follow-up, including MRI contraindications such as non-compatible metal implants or severe claustrophobia, expected difficulty completing follow-up because of long-term relocation, poor communication access, poor adherence, or other situations judged by the investigators to make participation inappropriate.

Pregnant women.

Where this trial is running

Beijing, Beijing Municipality

• Beijing Hospital — Beijing, Beijing Municipality, China (RECRUITING)

Study contacts

• Study coordinator: Dong Zhang, MD

Conditions: Moyamoya Disease, Early Screening, Family-Based Cohort, Biomarkers, High-Resolution MRI, Multi-omics