Clinical Trial: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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 Summary:

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.


Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Current Primary Outcome:

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


Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Dates:
Date Received: August 29, 2011
Date Started: September 2010
Date Completion: July 2020
Last Updated: January 18, 2017
Last Verified: January 2017