Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke

Study Overview
=================
Brief Summary
-----------------
The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke. To do this, biomarkers (gene and imaging) for moyamoya disease are tested and follow up angiography are performed during follow up (in selected patients).

Detailed Description
-----------------
Purpose Both moyamoya disease (MMD) and intracranial atherosclerotic stenosis (ICAS) are more prevalent in Asians than in Westerners, although the reason for the race-ethnic differences is unsettled. It is possible that patients with adult-onset MMD were misclassified as having ICAS, which may in part explain the high prevalence of intracranial atherosclerosis in Asians. It is important to differentiation between these two diseases because MMD and ICAS have differential therapeutic strategies (surgical revascularization in MMD vs. the use of antithrombotics/statins and stenting in ICAS). The ring finger 213 (RNF213) was recently identified as a susceptibility gene for MMD in East Asians. Characteristic high-resolution (HR) MRI findings of MMD and ICAS have recently been reported. The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke. To do this, biomarkers (gene and imaging) for moyamoya disease are tested and follow up angiography are performed during follow up (in selected patients). Conditions: Stroke, intracranial occlusive lesion Intervention: None Study period: Jan 22, 2014   Dec 31, 2016 Study design: Observational model Time perspective: Retrospective-Prospective

Official Title
-----------------
Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke

Conditions
-----------------
Moyamoya Disease, Intracranial Atherosclerotic Stroke, Intracranial Steno-occlusive Disease

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Intracranial atherosclerotic stroke Patients with age over 20 years Patients with focal neurological deficits presented within 7 days of symptom onset Patients with acute ischemic lesions on diffusion-weighted image (DWI) Patients with stenosis on the relevant intracranial vessels (distal ICA and/ or M1) Moyamoya disease Patients with age over 20 years Patients who performed conventional angiography Patients who are diagnosed as having either definite or probable Moyamoya disease Healthy subjects Subjects with age over 20 years Subjects with no history of cerebrovascular disease Exclusion Criteria: Patients with extracranial stenosis more than 50% Patients with potential sources of cardio-aortic embolism Patients with moderate to severe renal disease Pregnancy or lactation Patients with short life expectancy

Ages Eligible for Study
-----------------
Minimum Age: 20 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Intracranial atherosclerotic stroke<br> | |
| Moyamoya disease<br> | |
| Healthy controls<br> | |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of RNF213 gene variants and HR-MRI findings in patients with intracranial atherosclerosis |  | Anytime during study period (in intracranial atherosclerosis, HR-MRI findings within 2 weeks) | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of typical angiographic findings of moyamoya disease at follow up conventional angiography in patients with intracranial atherosclerosis who showed typical gene and imaging biomarkers of moyamoya disease |  | Within 2 years | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Moyamoya disease, Intracranial atherosclerotic stroke, Intracranial steno-occlusive disease, ring finger 213 (RNF213) gene mutation, high-resolution MRI