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Spots Global Cancer Trial Database for Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

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Trial Identification

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

Interventions

Study Description

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.

Eligibility

Minimum Age: 1 Month

Eligible Ages: CHILD, ADULT, OLDER_ADULT

Sex: ALL

Healthy Volunteers: Yes

Locations

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

Contact Details

Name: Anne M Comi, M.D.

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

Role: PRINCIPAL_INVESTIGATOR

Useful links and downloads for this trial

Clinicaltrials.gov

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