Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Active, not recruiting

• Conditions: Sturge-Weber Syndrome

• Registration Number: NCT01425944
• Lead Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Brief 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.

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 Timeline

• Study Start: 2010-09
• Study First Submitted: 2011-08-29
• Study First Submitted QC: 2011-08-29
• Study First Posted: 2011-08-30
• Status Verified: 2024-02
• Last Update Submitted: 2025-02-17
• Last Update Posted: 2025-02-18
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 600

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Aim 2	All 5 years	Correlation between neuroscore and degree of collateral venous vessel opening
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 3	All 5 years	Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins

Trial Locations

Locations (7)

Kennedy Krieger Institute; 🇺🇸 Baltimore, Maryland, United States

Nationwide Children's Hospital; 🇺🇸 Columbus, Ohio, United States

Wills Eye Institute; 🇺🇸 Philadelphia, Pennsylvania, United States

Wayne State University/Children's Hospital of Michigan; 🇺🇸 Detroit, Michigan, United States

Baylor College of Medicine/Texas Children's Hospital; 🇺🇸 Houston, Texas, United States

New York University; 🇺🇸 New York, New York, United States

Cincinnati Children's Hospital; 🇺🇸 Cincinnati, Ohio, United States