Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Primary outcome
研究概览
简要总结
This is a study of 40 individuals with Sturge-Weber Syndrome (SWS) brain and/or eye involvement. It will examine the test-retest reliability of the following clinical tests:
- Quantitative EEG
- Transcranial Doppler
- Medical Rehabilitation Scales
- Optical Coherence Tomography
详细描述
Sturge-Weber Syndrome (SWS) is a rare disorder presenting at birth with a facial port-wine birthmark and later in infancy with seizures and strokes that result in weakness on one side of the body, cognitive disabilities, glaucoma, and visual field deficits. Approximately 10-50% of infants born with a facial port-wine birthmark on the upper part of the face will also have SWS brain and/or eye involvement. Early detection and treatment of the disease is necessary to improve an SWS patient's outcome, and early biological indicators need to be discovered to make this possible. We believe the following tests can serve as non-invasive biomarkers to improve early diagnosis, monitor response to treatment, and to predict outcome:
- Quantitative EEG
- Transcranial Doppler
- Medical Rehabilitation Scales
- Optical Coherence Tomography The first step of this process is to determine how much the results of these tests vary between individual tests.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 21 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals with SWS and brain involvement (Aims 1-3): for the purposes of this study SWS brain involvement is defined as having shown on MRI imaging evidence of the typical vascular malformation which includes the following: leptomeningeal angioma, choroid plexus glomus, and associated venous angioma/malformation.
- •Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS eye involvement is defined as individuals with a port-wine birthmark in the V1 dermatomal distribution
- •Able (or parents able) to provide informed consent
- •Able to cooperate with tests
- •Age 6 months to 21 years (Aims 1-3 only)
排除标准
- •Subjects unable to cooperate with the studies will be excluded.
结局指标
主要结局
Primary outcome
时间窗: 2 years
Our primary aim is to demonstrate correlation between progression of clinical symptoms and evolution of the vascular malformation involving the brain, skin, and the eye.
次要结局
未报告次要终点
研究者
Anne Comi, MD
Associate Professor, Neurology and Developmental Medicine, Kennedy Krieger Institute, Johns Hopkins University
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.