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


N/A
6 Months
21 Years
Open (Enrolling)
Both
Sturge-Weber Syndrome

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Trial Information

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 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.


Inclusion Criteria:



1. 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.

2. Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS
eye involvement is defined as individuals with a port-wine birthmark in the V1
dermatomal distribution

3. Able (or parents able) to provide informed consent

4. Able to cooperate with tests

5. Age 6 months to 21 years (Aims 1-3 only)

Exclusion Criteria:

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

Type of Study:

Observational

Study Design:

Observational Model: Case-Only, Time Perspective: Prospective

Principal Investigator

Anne Comi, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

Hunter Nelson Sturge-Weber Center

Authority:

United States: Federal Government

Study ID:

NA_00043846

NCT ID:

NCT01345305

Start Date:

July 2010

Completion Date:

December 2012

Related Keywords:

  • Sturge-Weber Syndrome
  • Sturge-Weber Syndrome
  • Biomarkers
  • Quantitative EEG
  • Transcranial Doppler Ultrasound
  • Medical Rehabilitation Scales
  • Optical Coherence Tomography
  • Klippel-Trenaunay-Weber Syndrome
  • Sturge-Weber Syndrome
  • Neurocutaneous Syndromes
  • Brain Stem Infarctions

Name

Location

Hunter Nelson Sturge-Weber Center at Kennedy Krieger InstituteBaltimore, Maryland  21205