RNF213 Variants and Collateral Vessels in Moyamoya Disease

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

Study Overview

• Status: Completed
• Conditions: Moyamoya Disease
• Intervention / Treatment: Other: Identification of genetic variants

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 Type: Observational
• Enrollment (Actual): 300

Contacts and Locations

Study Locations

• China
  • Beijing
    • Beijing, Beijing, China
      • Beijing Tiantan Hospital Capital Medical University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years to 60 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Moyamoya disease patients

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

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.

Other: Identification of genetic variants; Identification of genetic variants

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Beijing Tiantan Hospital

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2019
• Primary Completion (Actual): June 30, 2021
• Study Completion (Actual): June 30, 2021

Study Registration Dates

• First Submitted: May 25, 2021
• First Submitted That Met QC Criteria: May 25, 2021
• First Posted (Actual): May 28, 2021

Study Record Updates

• Last Update Posted (Actual): February 17, 2022
• Last Update Submitted That Met QC Criteria: February 16, 2022
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Keywords: Moyamoya Disease; RNF213 Variants; Collateral Vessels
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Arterial Occlusive Diseases; Carotid Artery Diseases; Cerebral Arterial Diseases; Intracranial Arterial Diseases; Moyamoya Disease
• Other Study ID Numbers: KY 2017-141-01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No