Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

NCT01425944 — Active not recruiting, 600 participants, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

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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

Registry	NCT01425944
Status	Active not recruiting
Study type	Observational
Enrollment	600 (Estimated)
Sponsor	Hugo W. Moser Research Institute at Kennedy Krieger, Inc. (Other); collaborators: National Institutes of Health (NIH), University of California, San Francisco, National Institute of Neurological Disorders and Stroke (NINDS), Duke University, Children's Hospital of Michigan, Baylor College of Medicine, Wills Eye, Nationwide Children's Hospital, New York University, Children's Hospital Medical Center, Cincinnati
Conditions	Sturge-Weber Syndrome
Dates	start 2010-09-01, primary completion 2025-12-01, completion 2027-02-09 (estimated), first posted 2011-08-30, last updated 2026-03-02
Locations	7 sites in United States

-Summary

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.

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+Detailed description

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.

+Outcome measures

Primary outcomes

Aim 1 [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 2 [All 5 years]: Correlation between neuroscore and degree of collateral venous vessel opening
Aim 3 [All 5 years]: Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins

+Eligibility

Sex: All, ages: 1 Month to any, accepts healthy volunteers

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

+Locations (7)

Facility	City	Country
Kennedy Krieger Institute	Baltimore, Maryland	United States
Wayne State University/Children's Hospital of Michigan	Detroit, Michigan	United States
New York University	New York, New York	United States
Cincinnati Children's Hospital	Cincinnati, Ohio	United States
Nationwide Children's Hospital	Columbus, Ohio	United States
Wills Eye Institute	Philadelphia, Pennsylvania	United States
Baylor College of Medicine/Texas Children's Hospital	Houston, Texas	United States

+Investigators

Anne M Comi, M.D., Principal investigator, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

+Funding

NIH grants: U54NS065705