RNF213 Variants and Collateral Vessels in Moyamoya Disease

NCT04906564 | Completed

• 1 other identifier: KY 2017-141-01
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Moyamoya Disease

Keywords

Moyamoya Disease; RNF213 Variants; Collateral Vessels

Outcome Measures

Primary Outcomes (1)

• Identification of RNF213 variants and different types of collateral vessels

  Baseline

Secondary Outcomes (3)

• Identification of serum biomarkers and different types of collateral vessels

  Baseline

• Identification of clinical characteristics and different types of collateral vessels

  Baseline

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

  6-12 months

Study Arms (1)

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

Interventions

Identification of genetic variants OTHER

Identification of genetic variants

Moyamoya disease patients

Eligibility Criteria

• Age: 4 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Moyamoya disease patients

You may qualify if:

• 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'

You may not qualify if:

• 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

Sponsors & Collaborators

• Beijing Tiantan Hospital: lead

Study Sites (1)

Beijing Tiantan Hospital Capital Medical University

Beijing, Beijing Municipality, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Moyamoya Disease

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 25, 2021
• First Posted: May 28, 2021
• Study Start: January 1, 2019
• Primary Completion: June 30, 2021
• Study Completion: June 30, 2021
• Last Updated: February 17, 2022

Record last verified: 2022-02

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)