Biomarker Development in Sturge-Weber Syndrome (Pilot)

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

Study Overview

• Status: Completed
• Conditions: Sturge-Weber Syndrome

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.

• Study Type: Observational
• Enrollment (Actual): 40

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 months to 21 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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)

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Primary outcome	Our primary aim is to demonstrate correlation between progression of clinical symptoms and evolution of the vascular malformation involving the brain, skin, and the eye.	2 years

Collaborators and Investigators

• Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS); National Institutes of Health (NIH); University of California, San Francisco
• Investigators: Principal Investigator: Anne M Comi, M.D., Hunter Nelson Sturge-Weber Center

Study record dates

Study Major Dates

• Study Start: July 1, 2010
• Primary Completion (Actual): November 1, 2012
• Study Completion (Actual): November 1, 2012

Study Registration Dates

• First Submitted: April 28, 2011
• First Submitted That Met QC Criteria: April 28, 2011
• First Posted (Estimate): May 2, 2011

Study Record Updates

• Last Update Posted (Actual): April 16, 2020
• Last Update Submitted That Met QC Criteria: April 15, 2020
• Last Verified: April 1, 2020

More Information

Terms related to this study

• Keywords: Biomarkers; Optical Coherence Tomography; Sturge-Weber Syndrome; Quantitative EEG; Transcranial Doppler Ultrasound; Medical Rehabilitation Scales
• Additional Relevant MeSH Terms: Ischemia; Pathologic Processes; Necrosis; Cardiovascular Diseases; Vascular Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Disease; Brain Ischemia; Infarction; Stroke; Brain Infarction; Hemangioma; Neoplasms, Vascular Tissue; Neurocutaneous Syndromes; Angiomatosis; Syndrome; Klippel-Trenaunay-Weber Syndrome; Sturge-Weber Syndrome; Brain Stem Infarctions
• Other Study ID Numbers: NA_00043846; BVMC6204 (Other Identifier: Rare Diseases Clinical Research Network); U54NS065705-02 (U.S. NIH Grant/Contract)