Clinical Trial: Biomarker Development in Sturge-Weber Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development

Brief Summary:

This is a study of 40 individuals with Sturge-Weber Syndrome (SWS) brain and/or eye involvement. It will examine the test-retest reliability of the following clinical tests:

  1. Quantitative EEG
  2. Transcranial Doppler
  3. Medical Rehabilitation Scales
  4. Optical Coherence Tomography

Detailed Summary:

Sturge-Weber Syndrome (SWS) is a rare disorder presenting at birth with a facial port-wine birthmark and later in infancy with seizures and strokes that result in weakness on one side of the body, cognitive disabilities, glaucoma, and visual field deficits. Approximately 10-50% of infants born with a facial port-wine birthmark on the upper part of the face will also have SWS brain and/or eye involvement. Early detection and treatment of the disease is necessary to improve an SWS patient's outcome, and early biological indicators need to be discovered to make this possible. We believe the following tests can serve as non-invasive biomarkers to improve early diagnosis, monitor response to treatment, and to predict outcome:

  1. Quantitative EEG
  2. Transcranial Doppler
  3. Medical Rehabilitation Scales
  4. Optical Coherence Tomography The first step of this process is to determine how much the results of these tests vary between individual tests.

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

Current Primary Outcome: Primary outcome [ Time Frame: 2 years ]

Our primary aim is to demonstrate correlation between progression of clinical symptoms and evolution of the vascular malformation involving the brain, skin, and the eye.


Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Dates:
Date Received: April 28, 2011
Date Started: July 2010
Date Completion:
Last Updated: July 31, 2013
Last Verified: July 2013