BVMC

Information for Patients and Families

Clinical Studies

6204: Establishing reliability for Quantitative EEG, Transcranial Doppler, behavioral outcomes and Optical Coherence Tomography in SWS: The next step toward biomarker development

Status: Recruiting

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Background

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.

About this Study

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

To participate in aims 1-3, patients must be within 6 months and 10 years old, and be diagnosed with SWS brain involvement. To participate in aim 4, patients must be diagnosed with SWS eye involvement. Participants will undergo whichever tests they choose to participate in twice within a seven-day period. They will receive a short neurological exam before the first test, and again before the second if the two tests are not on the same day.

Targeted Enrollment

To be eligible to participate, you must:

  • Have SWS brain involvement (for aims 1-3)
  • Have SWS eye involvement (for aim 4)
  • Be able to (or have a parent or guardian able to) provide informed consent
  • Be able to co-operate with tests
  • Be between the ages of 6 months and 10 years of age (for aims 1-3 only)

You are not eligible to participate if:

  • You cannot cooperate with the study procedures.

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.