Clinical trial NCT02074111: Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke
Official title: Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Moyamoya Disease
Intracranial Atherosclerotic Stroke
Intracranial Steno-occlusive Disease
Keywords: Moyamoya disease
Intracranial atherosclerotic stroke
Intracranial steno-occlusive disease
ring finger 213 (RNF213) gene mutation
high-resolution MRI
Lead sponsor: Samsung Medical Center
Sponsor class: OTHER
First posted: 2014-02-28
Enrollment: 400
Sex: ALL
Minimum age (years): 20
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: OTHER
Sampling method: PROBABILITY_SAMPLE
Study population: Tertiary Hospital

Brief summary: 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).

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

Eligibility criteria: 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

Primary outcomes:
measure: Frequency of RNF213 gene variants and HR-MRI findings in patients with intracranial atherosclerosis
timeFrame: Anytime during study period (in intracranial atherosclerosis, HR-MRI findings within 2 weeks)
Secondary outcomes:
measure: 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
timeFrame: Within 2 years
Other outcomes:
Locations:
city: Seoul
country: Korea, Republic of
facility: Department of Neurology, Samsung Medical Center
Study officials:
affiliation: Associate Professor
name: Oh Young Bang, MD PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.