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
  Purpose
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
Sturge-Weber Syndrome

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:

Primary Outcome Measures:
  • 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


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.

Estimated Enrollment: 600
Study Start Date: September 2010
Estimated Study Completion Date: July 2020
Estimated Primary Completion Date: July 2020 (Final data collection date for primary outcome measure)
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

Ages Eligible for Study:   1 Month and older   (Child, Adult, Senior)
Genders Eligible for Study:   Both
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01425944

Contacts
Contact: Emma H Kaplan, B.A. 443-923-9569 Kaplan@kennedykrieger.org
Contact: Elizabeth B Atkins, B.A. 443-923-9127 Atkinse@kennedykrieger.org

Locations
United States, Maryland
Kennedy Krieger Institute Recruiting
Baltimore, Maryland, United States, 21205
Contact: Emma H Kaplan, B.A.    443-923-9569    Kaplan@kennedykrieger.org   
Contact: Elizabeth B Atkins, B.A.    443-923-9127    Atkinse@kennedykrieger.org   
Principal Investigator: Anne Comi, MD         
United States, Michigan
Wayne State University/Children's Hospital of Michigan Recruiting
Detroit, Michigan, United States, 48201
Contact: Cynthia Burnett    313-993-3848    cgburnet@med.wayne.edu   
Principal Investigator: Csaba Juhasz, MD         
Sub-Investigator: Harry Chugani, MD         
United States, New York
New York University Recruiting
New York, New York, United States
Contact: Veronique Ruppe, PhD    646-558-0877    Veronique.Ruppe@nyumc.org   
Principal Investigator: Daniel Miles, MD         
United States, Ohio
Cincinnati Children's Hospital Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Paula Mobberley-Schuman, MS    513-803-9255    Paula.Mobberley-Schuman@cchmc.org   
Principal Investigator: Adrienne Hammill, MD, PhD         
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Warren Lo, MD    617-722-4625    Warren.Lo@nationwidechildrens.org   
Principal Investigator: Warren Lo, MD         
United States, Pennsylvania
Wills Eye Institute Recruiting
Philadelphia, Pennsylvania, United States, 19107
Contact: Waleed Abedalnabi, MD    215-928-3418    WAbedalnabi@willseye.org   
Principal Investigator: Alex Levin, MD         
United States, Texas
Baylor College of Medicine/Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
Contact: Daniel Elledge    832-822-1258    dkelledg@texaschildrens.org   
Principal Investigator: Angus Wilfong         
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
Texas Children's Hospital
Baylor College of Medicine
Wills Eye
Nationwide Children's Hospital
New York University
Children's Hospital Medical Center, Cincinnati
Investigators
Principal Investigator: Anne Comi, MD Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
  More Information

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     History of Changes
Other Study ID Numbers: NA_00038014  U54NS065705-02  BVMC6202  BVMC6208 
Study First Received: August 29, 2011
Last Updated: October 12, 2015
Health Authority: United States: Federal Government

Keywords provided by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:
Sturge Weber Syndrome
Biomarkers
DNA arrays
brain vessel malformations

Additional relevant MeSH terms:
Syndrome
Brain Stem Infarctions
Klippel-Trenaunay-Weber Syndrome
Sturge-Weber 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

ClinicalTrials.gov processed this record on August 22, 2016