RNF213 Variants and Collateral Vessels in Moyamoya Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-01-01

Study Completion Date

2021-06-30

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.

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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.

Conditions

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Moyamoya Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Moyamoya disease patients

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.

Identification of genetic variants

Intervention Type OTHER

Identification of genetic variants

Interventions

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Identification of genetic variants

Intervention Type OTHER

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

Minimum Eligible Age

4 Years

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No