Family screening and early detection for moyamoya disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Beijing Hospital
  Beijing, Beijing Municipality, China Recruiting

Study contacts

• Study coordinator: Dong Zhang, MD
• Email: zhangdong0660@aliyun.com
• Phone: +86-13801121292

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Risk prediction for stroke and cognitive decline in Moyamoya disease and Moyamoya syndrome

  A large multicenter study tests whether combining clinical data, imaging, lab and genetic information can predict who will have stroke or cognitive decline among people with Moyamoya.

  Recruiting Beijing Tiantan Hospital · Beijing, Beijing Municipality and 12 other locations · NCT07894107

• 5T MRI and Metabolomics to Predict Hemorrhage Risk in Moyamoya Disease

  This study tests whether advanced 5T MRI imaging and metabolomics can help predict which moyamoya patients are at higher risk of intracranial hemorrhage.

  Recruiting Beijing Hospital · Beijing, Beijing Municipality · NCT07781579

• XR-assisted CT-guided localization for EC-IC bypass in Moyamoya and chronic cerebral ischemia

  The study tests whether a metaverse-based surgical simulation with extended reality helps localize vessels during EC-IC bypass for moyamoya disease or chronic cerebral ischemia.

  Recruiting National Taiwan University Hospital · Taipei · NCT07711457

• Remimazolam: target-controlled infusion versus manual infusion during cerebrovascular bypass

  This trial will test whether target-controlled infusion uses less remimazolam than manual infusion in adults undergoing cerebrovascular bypass surgery for moyamoya disease.

  Recruiting Seoul National University Hospital · Seongnam-si, Gyeonggi-do · NCT07377695

• Cardiac index–guided blood flow management during pediatric Moyamoya EDAS surgery

  This study will test whether using each child's cardiac index to guide fluids and hemodynamic care during EDAS lowers postoperative transient ischemic episodes in children with Moyamoya disease.

  Recruiting Seoul National University Hospital · Seoul · NCT07304947

• Combined cognitive and motor training for people with stroke or Moyamoya disease

  This trial will test whether combined cognitive-motor training helps people with post-stroke cognitive impairment or Moyamoya disease improve their thinking and movement.

  Recruiting National Taiwan University Hospital · Taipei · NCT07144930

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.