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

Sturge-Weber syndrome (SWS) is a rare, congenital syndrome with vascular malformations of the brain, skin and eye. The underlying cause of SWS is unknown and the extent of involvement varies greatly from patient to patient. Those with brain involvement present with seizures, stroke-like episodes and neurologic deficits, usually in infancy. Those with eye involvement frequently develop vision threatening glaucoma and retinal injury. Treatment has been largely symptomatic and hampered by delayed diagnosis and the rarity of the condition.

The purpose of this study is to determine the reliability of non-invasive measures to be developed as biomarkers for SWS and to determine inter-rater reliability where appropriate. This includes measuring reliability for:

• Power asymmetry on Quantitative Electroencephalogram
• Asymmetry of Transcranial Doppler velocity and pulsatility
• Behavioral outcome measures (PEDI, Erhardt, Modified Rankin Scale)
• Optical Coherence Tomography

Approximately 40 subjects will participate in this observational, cross-sectional study. The first version study release included data of the first n=25 subjects.

• Study Weblinks:
  • BVMC - Brain Vascular Malformation Consortium
• Study Design:
  • Cross-Sectional
• Study Type:
  • Observational
  • Cross-Sectional
• Total number of consented subjects: 40
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• MeSH
• PMC
• Clinical Trials
  • NCT01345305

• Individuals with SWS and brain involvement (Aims 1-3): for the purposes of this study SWS brain involvement is defined as having shown on MRI imaging evidence of the typical vascular malformation which includes the following: leptomeningeal angioma, choroid plexus glomus, and associated venous angioma/malformation.
• Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS eye involvement is defined as individuals with a portwine birthmark in the V1 dermatomal distribution
• Able (or parents able) to provide informed consent
• Able to cooperate with tests
• Age 6 months to 21 years (Aims 1-3 only)

• Subjects unable to cooperate with the studies will be excluded.

1. Study Activated March 22, 2011
2. Last Accrual October 10, 2012

• Primary Phenotype: Sturge-Weber Syndrome

• Study Chairs
  • Anne Comi, MD. Kennedy Krieger Institute, Baltimore, MD, USA.
  • Jeffrey Krischer, PhD. Data Management and Coordinating Center, University of South Florida, Tampa, FL, USA.
• Funding Sources
  • U54NS065705. National Institutes of Health, Bethesda, MD, USA.