Sturge-Weber Syndrome Clinical Trial
Official title:
Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development
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
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.
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