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Completed

NCT Number: NCT04906564

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.

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Key information

Conditions

Moyamoya Disease Arterial Occlusive Diseases Brain Diseases Cardiovascular Diseases Carotid Artery Diseases Central Nervous System Diseases Cerebral Arterial Diseases Cerebrovascular Disorders Intracranial Arterial Diseases Nervous System Diseases Vascular Diseases

Age range

4 year–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Beijing Tiantan Hospital Capital Medical University

Beijing, Beijing Municipality, China

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Identification of genetic variants

Other

Identification of genetic variants

Primary outcomes

  1. Identification of RNF213 variants and different types of collateral vessels

    Time frame: Baseline

Secondary outcomes

  1. Identification of serum biomarkers and different types of collateral vessels

    Time frame: Baseline

    Hcy, HDL, LDL, ApoA, ApoB et al.

  2. Identification of clinical characteristics and different types of collateral vessels

    Time frame: Baseline

    Age, Gender, Clinical manifestations, Comorbidities, BMI et al.

  3. Identification of RNF213 variants, serum biomarkers, clinical characteristics and different types of postoperative collateral vessels

    Time frame: 6-12 months

Sponsors and collaborators

Lead sponsor

Beijing Tiantan Hospital

Other

Registry information

Important dates

Study start
2019
Primary completion
2021
Study completion
2021
First posted
May 28, 2021
Registry last updated
Feb 17, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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