Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Sturge-Weber Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01425944
• Other study ID #: NA_00038014
• Secondary ID: U54NS065705-02BV
• Status: Active, not recruiting
• Start date: September 2010
• Est. completion date: December 2024

Study information

• Verified date: February 2024
• Source: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 600
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 1 Month and older

Eligibility

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

Related Conditions & MeSH terms

• Brain Stem Infarctions
• Sturge-Weber Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Kennedy Krieger Institute	Baltimore	Maryland
United States	Cincinnati Children's Hospital	Cincinnati	Ohio
United States	Nationwide Children's Hospital	Columbus	Ohio
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	Wills Eye Institute	Philadelphia	Pennsylvania

Sponsors (11)

Lead Sponsor	Collaborator
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.	Baylor College of Medicine, Children's Hospital Medical Center, Cincinnati, Children's Hospital of Michigan, Duke University, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Nationwide Children's Hospital, New York University, University of California, San Francisco, Wills Eye

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	Aim 2	Correlation between neuroscore and degree of collateral venous vessel opening	All 5 years
Primary	Aim 3	Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins	All 5 years