RNF213 Variants and Collateral Vessels in Moyamoya Disease

Study Overview
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Brief Summary
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The purpose of this study is to detect the association between RNF213 variants and collateral vessels in patients with moyamoya disease.

Detailed Description
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Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by the presence of occlusion which occurs at the internal carotid arteries and their main branches during the development of a basal collateral network. The ring finger 213 (RNF213) was identified as a strong susceptibility gene in patients with MMD in East Asia. The role of RNF213 variants in pathogenesis of MMD is still unclear. Specific moyamoya vessels correlate with the onset of stroke. The purpose of this study is to investigate the relationship between RNF213 variants and collateral vessels in patients with moyamoya disease, and provide potential pathogenesis of moyamoya disease.

Official Title
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RNF213 Variants and Collateral Vessels in Moyamoya Disease

Conditions
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Moyamoya Disease

Intervention / Treatment
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* Other: Identification of genetic variants


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Written informed consent is obtained Patients with age between 4-60 years Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals' Exclusion Criteria: There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement Physical or subjective failure to cooperate with the examination or serious comorbid diseases

Ages Eligible for Study
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Minimum Age: 4 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Moyamoya disease patients<br>Moyamoya disease patients' inclusion Criteria: 1. Written informed consent is obtained; 2. Patients with age between 4-60 years; 3. Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'. Exclusion Criteria: 1. There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy; 2. Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement; 3. Physical or subjective failure to cooperate with the examination or serious comorbid diseases. | Other: Identification of genetic variants<br>* Identification of genetic variants<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of RNF213 variants and different types of collateral vessels |  | Baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of serum biomarkers and different types of collateral vessels | Hcy, HDL, LDL, ApoA, ApoB et al. | Baseline | 
| Identification of clinical characteristics and different types of collateral vessels | Age, Gender, Clinical manifestations, Comorbidities, BMI et al. | Baseline | 
| Identification of RNF213 variants, serum biomarkers, clinical characteristics and different types of postoperative collateral vessels |  | 6-12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Moyamoya Disease, RNF213 Variants, Collateral Vessels