Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 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: September 8, 2014
Last verified: September 2014
  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 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)


Biospecimen Retention:   Samples With DNA

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


Estimated Enrollment: 386
Study Start Date: September 2010
Estimated Study Completion Date: September 2015
Estimated Primary Completion Date: September 2015 (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, 2) determine the usefulness of urine vascular biomarkers, and 3) try to identify the hypothesized somatic mutation possibly causing SWS using DNA arrays.

  Eligibility

Ages Eligible for Study:   1 Month and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

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.

Criteria

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
  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

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   
Principal Investigator: Anne Comi, MD         
United States, Michigan
Wayne State University/Children's Hospital of Michigan Recruiting
Detroit, Michigan, United States, 48201
Contact: Cathie Germain    313-993-3848    cgermain@pet.wayne.edu   
Sub-Investigator: Csaba Juhasz, MD         
Principal Investigator: Harry Chugani, MD         
United States, Ohio
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: Rizwan Alvi, MBBS    267-733-9697    ralvi@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.
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
Investigators
Principal Investigator: Anne Comi, MD Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
  More Information

No publications provided

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
Study First Received: August 29, 2011
Last Updated: September 8, 2014
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
Sturge-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome
Brain Stem Infarctions
Disease
Pathologic Processes
Hemangioma
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms
Neurocutaneous Syndromes
Nervous System Diseases
Angiomatosis
Vascular Diseases
Cardiovascular Diseases
Brain Infarction
Brain Ischemia
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Stroke

ClinicalTrials.gov processed this record on October 19, 2014