The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 600
- 试验地点
- 7
- 主要终点
- Aim 2
研究概览
简要总结
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.
详细描述
This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome.
We plan to improve the future understanding and treatment of Sturge-Weber Syndrome by 1) establishing a national consortium database which will gather lager amounts of clinical data and serve indirectly as a registry to foster future clinical trials and determine the usefulness of urine vascular biomarkers to determine the vascular remodeling of the SWS birthmark and choroidal angioma, 2) study vascular remodeling with retrospective and prospective neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status, and 3) relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Month 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •For main sample:
- •Sturge-Weber syndrome
- •Diagnosed brain Involvement
- •For Control:
- •Family member of participating SWS patient
- •Sturge-Weber syndrome eye involvement
- •Sturge-Weber syndrome
- •Diagnosed Brain Involvement
- •Sturge-Weber syndrome
- •Diagnosed brain Involvement
- •Port-Wine Stain in V1 and/or V2 areas of face.
排除标准
- •Not Diagnosed with Sturge-Weber syndrome with brain Involvement (or eye involvement for OCT)
- •Family member must not have certain medical conditions. A list will be provided before consent is given.
- •Not Diagnosed with Sturge-Weber syndrome with brain Involvement
- •No Port-Wine Stain
结局指标
主要结局
Aim 2
时间窗: All 5 years
Correlation between neuroscore and degree of collateral venous vessel opening
Aim 1
时间窗: All 5 years
Descriptive statistics for the national database, correlation between neurologic score and urine angiogenesis factor, and correlation between PWS (port-wine stain) attributes, urine vascular factors, and neuroscore
Aim 3
时间窗: All 5 years
Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins
次要结局
未报告次要终点
研究者
Anne Comi, MD
Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute, Professor Johns Hopkins University School of Medicine
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.