Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Conditions
Sturge-Weber Syndrome
Conditions: official terms
Brain Stem Infarctions - Klippel-Trenaunay-Weber Syndrome - Sturge-Weber Syndrome - Syndrome
Conditions: Keywords
Sturge Weber Syndrome, Biomarkers, DNA arrays, brain vessel malformations
Study Type
Observational
Study Phase
N/A
Study Design
Time Perspective: Cross-Sectional
Overall Status
Recruiting
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.
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.
Criteria for eligibility
Healthy Volunteers: Accepts Healthy Volunteers
Maximum Age: N/A
Minimum Age: 1 Month
Gender: Both
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
Locations
Kennedy Krieger Institute
Baltimore, Maryland, United States
Status: Recruiting
Contact: Emma H Kaplan, B.A. - 443-923-9569 - Kaplan@kennedykrieger.org
Wayne State University/Children's Hospital of Michigan
Detroit, Michigan, United States
Status: Recruiting
Contact: Cathie Germain - 313-993-3848 - cgermain@pet.wayne.edu
Nationwide Children's Hospital
Columbus, Ohio, United States
Status: Recruiting
Contact: Warren Lo, MD - 617-722-4625 - warren.lo@nationwidechildrens.org
Wills Eye Institute
Philadelphia, Pennsylvania, United States
Status: Recruiting
Contact: Rizwan Alvi, MBBS - 267-733-9697 - ralvi@willseye.org
Baylor College of Medicine/Texas Children's Hospital
Houston, Texas, United States
Status: Recruiting
Contact: Daniel Elledge - 832-822-1258 - dkelledg@texaschildrens.org
Start Date
September 2010
Completion Date
September 2015
Sponsors
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Source
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Record processing date
ClinicalTrials.gov processed this data on July 28, 2015
ClinicalTrials.gov page