Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

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

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Sturge-Weber Syndrome

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.

• Study Type: Observational
• Enrollment (Estimated): 600

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Kennedy Krieger Institute
  • Michigan
    • Detroit, Michigan, United States, 48201
      • Wayne State University/Children's Hospital of Michigan
  • New York
    • New York, New York, United States, 10016
      • New York University
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital
    • Columbus, Ohio, United States, 43205
      • Nationwide Children's Hospital
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19107
      • Wills Eye Institute
  • Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine/Texas Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 month and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

For Aim 1, the population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. There will be a separate group made up of family members of those with Sturge-Weber syndrome brain involvement to have as a control for the urine portion of Aim 1. For the optical coherence tomography (OCT) portion of Aim 1, the population will be subjects with Sturge-Weber Syndrome eye involvement. For Aim 2, the population will be subjects that have Sturge-Weber Syndrome with brain involvement. For Aim 3, the population will be subjects with Sturge-Weber Syndrome, diagnosed brain involvement, and V1 distribution Port-Wine Stain.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Cross-Sectional

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Collaborators: Baylor College of Medicine; New York University; National Institute of Neurological Disorders and Stroke (NINDS); Duke University; National Institutes of Health (NIH); University of California, San Francisco; Nationwide Children's Hospital; Children's Hospital Medical Center, Cincinnati; Wills Eye; Children's Hospital of Michigan
• Investigators: Principal Investigator: Anne M Comi, M.D., Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2010
• Primary Completion (Actual): December 1, 2025
• Study Completion (Estimated): February 9, 2027

Study Registration Dates

• First Submitted: August 29, 2011
• First Submitted That Met QC Criteria: August 29, 2011
• First Posted (Estimated): August 30, 2011

Study Record Updates

• Last Update Posted (Actual): March 2, 2026
• Last Update Submitted That Met QC Criteria: February 26, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Biomarkers; Sturge Weber Syndrome; DNA arrays; brain vessel malformations
• Additional Relevant MeSH Terms: Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Neoplasms; Neoplasms by Histologic Type; Neurocutaneous Syndromes; Neoplasms, Vascular Tissue; Angiomatosis; Hemangioma; Sturge-Weber Syndrome
• Other Study ID Numbers: NA_00038014; U54NS065705-02 (U.S. NIH Grant/Contract); BVMC6202 (Other Identifier: Rare Diseases Clinical Research Network); BVMC6208 (Other Identifier: Rare Diseases Clinical Research Network)

Drug and device information, study documents

• product manufactured in and exported from the U.S.: No