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Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01425944
Recruitment Status : Active, not recruiting
First Posted : August 30, 2011
Last Update Posted : April 16, 2020
Sponsor:
Collaborators:
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
Information provided by (Responsible Party):
Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

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.

Condition or disease
Sturge-Weber Syndrome

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.

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Other
Time Perspective: Cross-Sectional
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 Start Date : September 2010
Estimated Primary Completion Date : July 2020
Estimated Study Completion Date : July 2020





Primary Outcome Measures :
  1. 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

  2. Aim 2 [ Time Frame: All 5 years ]
    Correlation between neuroscore and degree of collateral venous vessel opening

  3. Aim 3 [ Time Frame: All 5 years ]
    Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins


Biospecimen Retention:   Samples With DNA
Aim 1 retains data and samples without DNA. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   1 Month and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
For Aim 1, the population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. There will be a separate group made up of family members of those with Sturge-Weber syndrome brain involvement to have as a control for the urine portion of Aim 1. For the optical coherence tomography (OCT) portion of Aim 1, the population will be subjects with Sturge-Weber Syndrome eye involvement. For Aim 2, the population will be subjects that have Sturge-Weber Syndrome with brain involvement. For Aim 3, the population will be subjects with Sturge-Weber Syndrome, diagnosed brain involvement, and V1 distribution Port-Wine Stain.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01425944


Locations
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United States, Maryland
Kennedy Krieger Institute
Baltimore, Maryland, United States, 21205
United States, Michigan
Wayne State University/Children's Hospital of Michigan
Detroit, Michigan, United States, 48201
United States, New York
New York University
New York, New York, United States, 10016
United States, Ohio
Cincinnati Children's Hospital
Cincinnati, Ohio, United States, 45229
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
United States, Pennsylvania
Wills Eye Institute
Philadelphia, Pennsylvania, United States, 19107
United States, Texas
Baylor College of Medicine/Texas Children's Hospital
Houston, Texas, United States, 77030
Sponsors and Collaborators
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
Investigators
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Principal Investigator: Anne M Comi, M.D. Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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Responsible Party: Anne Comi, MD, Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute,Associate Professor Johns Hopkins University School of Medicine, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
ClinicalTrials.gov Identifier: NCT01425944    
Other Study ID Numbers: NA_00038014
U54NS065705-02 ( U.S. NIH Grant/Contract )
BVMC6202 ( Other Identifier: Rare Diseases Clinical Research Network )
BVMC6208 ( Other Identifier: Rare Diseases Clinical Research Network )
First Posted: August 30, 2011    Key Record Dates
Last Update Posted: April 16, 2020
Last Verified: April 2020
Keywords provided by Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:
Sturge Weber Syndrome
Biomarkers
DNA arrays
brain vessel malformations
Additional relevant MeSH terms:
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Sturge-Weber Syndrome
Brain Stem Infarctions
Klippel-Trenaunay-Weber Syndrome
Syndrome
Disease
Pathologic Processes
Brain Infarction
Brain Ischemia
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Stroke
Vascular Diseases
Cardiovascular Diseases
Angiomatosis
Hemangioma
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms
Neurocutaneous Syndromes