RNF213 Variants and Collateral Vessels in Moyamoya Disease

Completed

• Conditions: Moyamoya Disease
• Interventions: Other: Identification of genetic variants

• Registration Number: NCT04906564
• Lead Sponsor: Beijing Tiantan Hospital

Brief Summary

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

Detailed Description

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.

Study Timeline

• Study Start: 2019-01-01
• Study First Submitted: 2021-05-25
• Study First Submitted QC: 2021-05-25
• Study First Posted: 2021-05-28
• Primary Completion: 2021-06-30
• Study Completion: 2021-06-30
• Status Verified: 2022-02
• Last Update Submitted: 2022-02-16
• Last Update Posted: 2022-02-17

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 300

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Moyamoya disease patients	Identification of genetic variants	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.

Primary Outcome Measures

Name	Time	Method
Identification of RNF213 variants and different types of collateral vessels	Baseline

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Beijing Tiantan Hospital Capital Medical University; 🇨🇳 Beijing, Beijing, China