5T High-Resolution MRI: 5T high-resolution MRI will be performed in all cohorts at baseline enrollment. During follow-up, repeat 5T MRI may be performed optionally in participants who are willing to return for imaging reassessment.
Study summary
This single-center, prospective, family-based observational cohort study aims to investigate susceptibility to moyamoya disease (MMD) and to develop strategies for early screening in individuals at increased familial risk. The study will enroll three groups: patients with MMD, their first-degree relatives, and healthy controls without a family history of MMD.
The rationale for this study is that MMD has an important genetic component, but genetic susceptibility alone does not fully explain disease onset. Current diagnosis often relies on angiographic evaluation after symptoms have already appeared. This study seeks to identify earlier, less invasive biological and imaging markers that may help detect individuals at high risk before overt clinical disease develops.
At baseline, participants will undergo collection of demographic and clinical data, vascular risk factors, neurological assessments, routine laboratory testing, and 5T high-resolution magnetic resonance imaging. Biospecimens including blood, urine, stool, saliva, and nasal swabs will be collected for multi-omics and biomarker analyses; surgically obtained tissue specimens may also be collected from patients undergoing clinically indicated surgery.
Participants in the patient and first-degree relative groups will be followed annually for 3 years, primarily by telephone or online questionnaire, with optional repeat 5T MRI during follow-up. The primary objective is to identify baseline biological and imaging features associated with incident MMD in first-degree relatives and to establish an interpretable early-screening framework for high-risk populations.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
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.
Primary outcome measure(s)
Incident Moyamoya Disease in First-Degree Relatives — From enrollment through 3 years of follow-up Incident moyamoya disease occurring during follow-up in first-degree relatives of patients with moyamoya disease, confirmed by clinical diagnosis and imaging findings, including computed tomography angiography (CTA), magnetic resonance angiography (MRA), or digital subtraction angiography (DSA).
Recurrent Stroke or Transient Ischemic Attack in Participants With Moyamoya Disease — From enrollment through 3 years of follow-up Occurrence of recurrent stroke or transient ischemic attack during follow-up in participants with moyamoya disease, confirmed by clinical evaluation and imaging findings when applicable.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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