Family-Based Moyamoya Susceptibility and Early Detection

NCT07517354 | Recruiting

• 1 other identifier: 2026BJYYEC-KY030-01
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Moyamoya Disease

Keywords

Moyamoya Disease; Early Screening; Family-Based Cohort; Biomarkers; High-Resolution MRI; Multi-omics

Outcome Measures

Primary Outcomes (2)

• Incident Moyamoya Disease in First-Degree Relatives

  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).

  From enrollment through 3 years of follow-up

• Recurrent Stroke or Transient Ischemic Attack in Participants With Moyamoya Disease

  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.

  From enrollment through 3 years of follow-up

Secondary Outcomes (3)

• Rehospitalization in Participants With Moyamoya Disease

  From enrollment through 3 years of follow-up

• Repeat Surgery or Intervention in Participants With Moyamoya Disease

  From enrollment through 3 years of follow-up

• Functional Outcome Assessed by Modified Rankin Scale

  At 3 years after enrollment

Study Arms (3)

Moyamoya Disease Patients

Participants with moyamoya disease diagnosed according to standard imaging criteria, including newly diagnosed or previously diagnosed cases. Typical findings may be identified on DSA, CTA, or MRA. This observational cohort will undergo baseline clinical assessment, routine laboratory testing, 5T high-resolution MRI, and biospecimen collection. Planned enrollment: 400.

Diagnostic Test: 5T High-Resolution MRI

First-Degree Relatives of Patients With Moyamoya Disease

First-degree blood relatives of patients with moyamoya disease, including parents, children, and siblings, without a clinical diagnosis of moyamoya disease or prior cerebrovascular events at enrollment. Baseline MRI must not show definite moyamoya disease, although mild changes may be allowed. Participants will undergo baseline assessment and annual follow-up for 3 years to identify incident moyamoya disease and early risk markers. Planned enrollment: 200.

Diagnostic Test: 5T High-Resolution MRI

Healthy Controls

Healthy participants without a family history of moyamoya disease and without a personal history of cerebrovascular disease. Participants should have no major abnormalities on baseline screening, and age and sex distribution will be matched as closely as possible to the moyamoya disease group. This observational cohort will undergo baseline clinical assessment, routine laboratory testing, 5T high-resolution MRI, and biospecimen collection. Planned enrollment: 100.

Diagnostic Test: 5T High-Resolution MRI

Interventions

5T High-Resolution MRI DIAGNOSTIC_TEST

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.

First-Degree Relatives of Patients With Moyamoya Disease; Healthy Controls; Moyamoya Disease Patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This is a single-center, family-based prospective observational cohort study conducted at Beijing Hospital. The study plans to enroll 700 participants, including 400 patients with moyamoya disease, 200 first-degree relatives of patients with moyamoya disease, and 100 healthy controls without a family history of moyamoya disease. The study population is designed to compare patients, unaffected first-degree relatives at familial risk, and healthy controls in order to identify early biological and imaging markers, evaluate disease susceptibility, and develop early screening strategies for high-risk populations.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Beijing Tiantan Hospital: lead

Study Sites (1)

Beijing Hospital

Beijing, Beijing Municipality, 100730, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Retained biospecimens include blood (with serum/plasma), urine, stool, saliva, and nasal swabs collected at baseline. For patients undergoing clinically indicated surgery, operative tissue specimens may also be retained, including superficial temporal artery, dura mater, and bone debris. Samples may be used for biomarker, multi-omics, metabolomics, microbiome, inflammatory marker, and susceptibility-gene analyses. Remaining samples will be stored or destroyed according to ethics approval.

MeSH Terms

Conditions

Moyamoya Disease

Condition Hierarchy (Ancestors)

Carotid Artery Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Arterial Diseases; Intracranial Arterial Diseases; Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases

Central Study Contacts

Dong Zhang, MD

CONTACT

+86-13801121292; zhangdong0660@aliyun.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief physician

Study Record Dates

• First Submitted: March 28, 2026
• First Posted: April 8, 2026
• Study Start: November 12, 2024
• Primary Completion (Estimated): November 30, 2027
• Study Completion (Estimated): November 30, 2030
• Last Updated: April 8, 2026

Record last verified: 2026-04

Locations

CN (1)