NCT04906564

RNF213 Variants and Collateral Vessels in Moyamoya Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 300 (actual)
• Sponsor: Beijing Tiantan Hospital · Academic / Other
• Sex: All
• Age: 4 Years – 60 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Moyamoya Disease

Interventions

Type	Name	Description
OTHER	Identification of genetic variants	Identification of genetic variants

Timeline

• Start date: 2019-01-01
• Primary completion: 2021-06-30
• Completion: 2021-06-30
• First posted: 2021-05-28
• Last updated: 2022-02-17

Locations

1 site across 1 country: China