Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
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Purpose
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.
| 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 |
Aim 1 does not retain sample data. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.
| Estimated Enrollment: | 800 |
| 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) |
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 |
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.
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| United States, Maryland | |
| Kennedy Krieger Institute | Recruiting |
| Baltimore, Maryland, United States, 21205 | |
| Contact: Kira E Lanier, B.A. 443-923-9127 lanierk@kennedykrieger.org | |
| Contact: Adit K Sreenivasan, B.A. 443-923-9569 sreenivasan@kennedykrieger.org | |
| Principal Investigator: Anne Comie, 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 | |
| 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: | February 16, 2012 |
| 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:
|
Klippel-Trenaunay-Weber Syndrome Sturge-Weber Syndrome Neurocutaneous Syndromes Brain Stem Infarctions Vascular Malformations Central Nervous System Vascular Malformations Angiomatosis Vascular Diseases Cardiovascular Diseases Hemangioma Neoplasms, Vascular Tissue Neoplasms by Histologic Type Neoplasms Nervous System Diseases Ectodermal Dysplasia |
Abnormalities, Multiple Congenital Abnormalities Skin Abnormalities Skin Diseases, Genetic Genetic Diseases, Inborn Skin Diseases Brain Infarction Brain Ischemia Cerebrovascular Disorders Brain Diseases Central Nervous System Diseases Stroke Cardiovascular Abnormalities Nervous System Malformations |
ClinicalTrials.gov processed this record on May 23, 2013