Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

This study is currently recruiting participants.

Verified February 2012 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

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: February 16, 2012

Last verified: February 2012

History of Changes

Tracking Information

First Received Date ^ICMJE

August 29, 2011

Last Updated Date

February 16, 2012

Start Date ^ICMJE

September 2010

Estimated Primary Completion Date

September 2015 (final data collection date for primary outcome measure)

Current Primary Outcome Measures ^ICMJE

Not Provided

Original Primary Outcome Measures ^ICMJE

Not Provided

Change History

Complete list of historical versions of study NCT01425944 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Not Provided

Original Secondary Outcome Measures ^ICMJE

Not Provided

Current Other Outcome Measures ^ICMJE

Not Provided

Original Other Outcome Measures ^ICMJE

Not Provided

Descriptive Information

Brief Title ^ICMJE

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Official Title ^ICMJE

The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Brief Summary

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.

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.

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Time Perspective: Cross-Sectional

Target Follow-Up Duration

Not Provided

Biospecimen

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.

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.

Condition ^ICMJE

Sturge-Weber Syndrome

Intervention ^ICMJE

Not Provided

Study Group/Cohort (s)

Not Provided

Publications *

Not Provided

* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Estimated Enrollment ^ICMJE

800

Estimated Completion Date

September 2015

Estimated Primary Completion Date

September 2015 (final data collection date for primary outcome measure)

Eligibility Criteria ^ICMJE

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

Gender

Both

Ages

1 Month and older

Accepts Healthy Volunteers

Yes

Contacts ^ICMJE

Not Provided

Location Countries ^ICMJE

United States

Administrative Information

NCT Number ^ICMJE

NCT01425944

Other Study ID Numbers ^ICMJE

NA_00038014, U54NS065705-02, BVMC6202

Has Data Monitoring Committee

Responsible Party

Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Study Sponsor ^ICMJE

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Collaborators ^ICMJE

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

Investigators ^ICMJE

Principal Investigator:

Anne Comi, MD

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Information Provided By

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Verification Date

February 2012

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

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