Family-Based Study of Moyamoya Disease Risk and Early Detection Using 5T MRI and Biomarkers

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.

Family-Based Moyamoya Susceptibility and Early Detection