Symptoms and General Pathology

All Conditions

Diseases and Abnormalities at or Before Birth

Heart and Blood Diseases

Neoplasms

Nervous System Diseases

Skin and Connective Tissue Diseases

Rare Diseases

Syndrome

Congenital Abnormalities

Disease Progression

Vascular Malformations

Klippel-Trenaunay-Weber Syndrome

Sturge-Weber Syndrome

Infarction

Brain Stem Infarctions

Brain Infarction

Ischemia

Brain Ischemia

Cerebrovascular Disorders

Brain Diseases

Central Nervous System Diseases

Stroke

Vascular Diseases

Necrosis

Angiomatosis

Hemangioma

Neoplasms, Vascular Tissue

Neoplasms by Histologic Type

Neurocutaneous Syndromes

Klippel-Trenaunay Syndrome

Parkes Weber Syndrome

Weber Syndrome

Anne M Comi, M.D.

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.

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.

Aim 1 retains data and samples without DNA. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

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

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

Correlation between neuroscore and degree of collateral venous vessel opening

Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins

National Institutes of Health (NIH)

University of California, San Francisco

National Institute of Neurological Disorders and Stroke (NINDS)

Duke University

Children's Hospital of Michigan

Baylor College of Medicine

Wills Eye

Nationwide Children's Hospital

New York University

Children's Hospital Medical Center, Cincinnati

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

Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute, Professor Johns Hopkins University School of Medicine

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome	NCT01425944	Sturge-Weber Sy...		1 Month -	Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome	NCT01425944	Sturge-Weber Sy...		1 Month -	Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Spots Global Cancer Trial Database for dna arrays

Every month we try and update this database with for dna arrays cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for dna arrays

Every month we try and update this database with for dna arrays cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for dna arrays cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.