Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke

The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke. To do this, biomarkers (gene and imaging) for moyamoya disease are tested and follow up angiography are performed during follow up (in selected patients).

Study Overview

• Status: Unknown
• Conditions: Moyamoya Disease; Intracranial Atherosclerotic Stroke; Intracranial Steno-occlusive Disease

Detailed Description

1. Purpose Both moyamoya disease (MMD) and intracranial atherosclerotic stenosis (ICAS) are more prevalent in Asians than in Westerners, although the reason for the race-ethnic differences is unsettled. It is possible that patients with adult-onset MMD were misclassified as having ICAS, which may in part explain the high prevalence of intracranial atherosclerosis in Asians. It is important to differentiation between these two diseases because MMD and ICAS have differential therapeutic strategies (surgical revascularization in MMD vs. the use of antithrombotics/statins and stenting in ICAS). The ring finger 213 (RNF213) was recently identified as a susceptibility gene for MMD in East Asians. Characteristic high-resolution (HR) MRI findings of MMD and ICAS have recently been reported. The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke. To do this, biomarkers (gene and imaging) for moyamoya disease are tested and follow up angiography are performed during follow up (in selected patients).
2. Conditions: Stroke, intracranial occlusive lesion
3. Intervention: None
4. Study period: Jan 22, 2014 ~ Dec 31, 2016
5. Study design: Observational model Time perspective: Retrospective-Prospective

• Study Type: Observational
• Enrollment (Anticipated): 400

Contacts and Locations

• Study Contact: Name: Oh Young Bang, MD PhD; Phone Number: 82-2-3410-3599; Email: nmboy@unitel.co.kr

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of, 135-710
    • Recruiting
    • Department of Neurology, Samsung Medical Center
    • Contact: Oh Young Bang, MD PhD; Phone Number: 82-2-3410-3599; Email: nmboy@unitel.co.kr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Tertiary Hospital

Description

Inclusion Criteria:

1. Intracranial atherosclerotic stroke

   • Patients with age over 20 years
   • Patients with focal neurological deficits presented within 7 days of symptom onset
   • Patients with acute ischemic lesions on diffusion-weighted image (DWI)
   • Patients with stenosis on the relevant intracranial vessels (distal ICA and/ or M1)

2. Moyamoya disease

   • Patients with age over 20 years
   • Patients who performed conventional angiography
   • Patients who are diagnosed as having either definite or probable Moyamoya disease

3. Healthy subjects

   • Subjects with age over 20 years
   • Subjects with no history of cerebrovascular disease

Exclusion Criteria:

• Patients with extracranial stenosis more than 50%
• Patients with potential sources of cardio-aortic embolism
• Patients with moderate to severe renal disease
• Pregnancy or lactation
• Patients with short life expectancy

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Other

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Healthy controls
Intracranial atherosclerotic stroke
Moyamoya disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Frequency of RNF213 gene variants and HR-MRI findings in patients with intracranial atherosclerosis	Anytime during study period (in intracranial atherosclerosis, HR-MRI findings within 2 weeks)

Secondary Outcome Measures

Outcome Measure	Time Frame
Frequency of typical angiographic findings of moyamoya disease at follow up conventional angiography in patients with intracranial atherosclerosis who showed typical gene and imaging biomarkers of moyamoya disease	Within 2 years

Collaborators and Investigators

• Sponsor: Samsung Medical Center
• Investigators: Principal Investigator: Oh Young Bang, MD PhD, Associate Professor

Publications and helpful links

General Publications

• Kim JY, Kim HJ, Choi EH, Pan KH, Chung JW, Seo WK, Kim GM, Jee TK, Yeon JY, Kim JS, Hong SC, Seong MJ, Cha J, Kim KH, Jeon P, Bang OY. Vessel Wall Changes on Serial High-Resolution MRI and the Use of Cilostazol in Patients With Adult-Onset Moyamoya Disease. J Clin Neurol. 2022 Nov;18(6):610-618. doi: 10.3988/jcn.2022.18.6.610.

Study record dates

Study Major Dates

• Study Start: January 1, 2014
• Primary Completion (Anticipated): December 1, 2019
• Study Completion (Anticipated): December 1, 2019

Study Registration Dates

• First Submitted: February 26, 2014
• First Submitted That Met QC Criteria: February 26, 2014
• First Posted (Estimate): February 28, 2014

Study Record Updates

• Last Update Posted (Actual): April 26, 2017
• Last Update Submitted That Met QC Criteria: April 24, 2017
• Last Verified: April 1, 2017

More Information

Terms related to this study

• Keywords: Moyamoya disease; Intracranial atherosclerotic stroke; Intracranial steno-occlusive disease; ring finger 213 (RNF213) gene mutation; high-resolution MRI
• 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; Stroke; Moyamoya Disease
• Other Study ID Numbers: 2013-08-098-003