RNF213 Variants and Collateral Vessels in Moyamoya Disease

Moyamoya Disease Clinical Trial

Official title:

RNF213 Variants and Collateral Vessels in Moyamoya Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04906564
• Other study ID #: KY 2017-141-01
• Status: Completed
• Start date: January 1, 2019
• Est. completion date: June 30, 2021

Study information

• Verified date: February 2022
• Source: Beijing Tiantan Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 300
• Est. completion date: June 30, 2021
• Est. primary completion date: June 30, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Years to 60 Years

Eligibility

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

Related Conditions & MeSH terms

• Moyamoya Disease

Intervention

Other:
• Identification of genetic variants
Identification of genetic variants

Locations

Country	Name	City	State
China	Beijing Tiantan Hospital Capital Medical University	Beijing	Beijing

Sponsors (1)

Lead Sponsor	Collaborator
Beijing Tiantan Hospital

Country where clinical trial is conducted

China, 

Outcome

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