Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sponsor:
Collaborators:
University of California, San Francisco
Duke University
Children's Hospital of Michigan
Baylor College of Medicine
Texas Children's Hospital
Wills Eye
Nationwide Children's Hospital
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: July 31, 2013
Last verified: July 2013

August 29, 2011
July 31, 2013
September 2010
September 2015   (final data collection date for primary outcome measure)
  • Aim 1 [ Time Frame: All 5 years ] [ Designated as safety issue: No ]
    Descriptive Statistics from National Database
  • Aim 2 [ Time Frame: Years 1-3 ] [ Designated as safety issue: No ]
    Correlation between neuroscores and urine biomarkers
  • Aim 3 [ Time Frame: Years 1-4 ] [ Designated as safety issue: No ]
    Identification of candidate somatic mutation(s)
Not Provided
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 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, 2) determine the usefulness of urine vascular biomarkers, and 3) try to identify the hypothesized somatic mutation possibly causing SWS using DNA arrays.

Observational
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:

Aim 1 does not retain sample data. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.

Non-Probability Sample

For Aim 1, population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. For Aim 2, population will be subjects that have Sturge-Weber Syndrome with brain involvement, and a seperate group will be family members to have as a control. For Aim 3, 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
800
September 2015
September 2015   (final data collection date for primary outcome measure)

Inclusion Criteria:

For Aim 1:

  • Sturge-Weber Syndrome
  • Diagnosed Brain Involvement

For Aim 2:

For main sample:

  • Sturge-Weber Syndrome
  • Diagnosed Brain Involvement

For Control:

  • Family member of participating SWS patient

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

For Aim 2:

  • Family member must not have certain medical conditions. A list will be provided before consent is given.

For Aim 3:

  • No Port-Wine Stain
Both
1 Month and older
Yes
Contact: Cathy Bachur, B.A. 443.923.-9569 Bachur@kennedykrieger.org
United States
 
NCT01425944
NA_00038014, U54NS065705-02, BVMC6202
No
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
  • Baylor College of Medicine
  • Texas Children's Hospital
  • Wills Eye
  • Nationwide Children's Hospital
Principal Investigator: Anne Comi, MD Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
July 2013

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