Clinical trial NCT01345305: Biomarker Development in Sturge-Weber Syndrome
Official title: Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Sturge-Weber Syndrome
Keywords: Sturge-Weber Syndrome
Biomarkers
Quantitative EEG
Transcranial Doppler Ultrasound
Medical Rehabilitation Scales
Optical Coherence Tomography
Lead sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: University of California, San Francisco
name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2011-05-02
Enrollment: 40
Sex: ALL
Minimum age (years): 6
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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 portwine 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)

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 description: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Primary outcome
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute
state: Maryland
Study officials:
affiliation: Hunter Nelson Sturge-Weber Center
name: Anne M Comi, M.D.
role: PRINCIPAL_INVESTIGATOR
References: