Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2015 by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
Texas Children's Hospital
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.
ClinicalTrials.gov Identifier:
NCT01425944
First received: August 29, 2011
Last updated: October 12, 2015
Last verified: October 2015

August 29, 2011
October 12, 2015
September 2010
July 2020   (final data collection date for primary outcome measure)
  • Aim 1 [ Time Frame: All 5 years ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    Correlation between neuroscore and degree of collateral venous vessel opening
  • Aim 3 [ Time Frame: All 5 years ] [ Designated as safety issue: No ]
    Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins
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Complete list of historical versions of study NCT01425944 on ClinicalTrials.gov Archive Site
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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
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.

Observational
Time Perspective: Cross-Sectional
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Retention:   Samples With DNA
Description:
Aim 1 retains data and samples without DNA. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.
Non-Probability Sample
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.
Sturge-Weber Syndrome
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
600
July 2020
July 2020   (final data collection date for primary outcome measure)

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
Both
1 Month and older   (Child, Adult, Senior)
Yes
Contact: Emma H Kaplan, B.A. 443-923-9569 Kaplan@kennedykrieger.org
Contact: Elizabeth B Atkins, B.A. 443-923-9127 Atkinse@kennedykrieger.org
United States
 
NCT01425944
NA_00038014, U54NS065705-02, BVMC6202, BVMC6208
No
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Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
  • Texas Children's Hospital
  • Baylor College of Medicine
  • Wills Eye
  • Nationwide Children's Hospital
  • New York University
  • Children's Hospital Medical Center, Cincinnati
Principal Investigator: Anne Comi, MD Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
October 2015

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP