Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Conditions
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Sturge-Weber Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: For Aim 1: For main sample: Sturge-Weber syndrome Diagnosed brain Involvement For Control: Family member of participating SWS patient For OCT: Sturge-Weber syndrome eye involvement For Aim 2: Sturge-Weber syndrome Diagnosed Brain Involvement For Aim 3: Sturge-Weber syndrome Diagnosed brain Involvement Port-Wine Stain in V1 and/or V2 areas of face. Exclusion Criteria: Not Diagnosed with Sturge-Weber syndrome with brain Involvement (or eye involvement for OCT) For Aim 1: Family member must not have certain medical conditions. A list will be provided before consent is given. For Aim 3: Not Diagnosed with Sturge-Weber syndrome with brain Involvement No Port-Wine Stain

Ages Eligible for Study
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Minimum Age: 1 Month

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Aim 1 | 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 | All 5 years | 
| Aim 2 | Correlation between neuroscore and degree of collateral venous vessel opening | All 5 years | 
| Aim 3 | Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins | All 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Sturge Weber Syndrome, Biomarkers, DNA arrays, brain vessel malformations