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Brief Title: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Official Title: The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Study ID: NCT01425944
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.
Minimum Age: 1 Month
Eligible Ages: CHILD, ADULT, OLDER_ADULT
Sex: ALL
Healthy Volunteers: Yes
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
Name: Anne M Comi, M.D.
Affiliation: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Role: PRINCIPAL_INVESTIGATOR