Biomarker Development in Sturge-Weber Syndrome

Sturge-Weber Syndrome Clinical Trial

— Pilot  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01345305
• Other study ID #: NA_00043846
• Secondary ID: BVMC6204U54NS065
• Status: Completed
• Start date: July 2010
• Est. completion date: November 2012

Study information

• Verified date: April 2020
• Source: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 40
• Est. completion date: November 2012
• Est. primary completion date: November 2012
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Months to 21 Years

Eligibility

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.

Related Conditions & MeSH terms

• Brain Stem Infarctions
• Sturge-Weber Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute	Baltimore	Maryland

Sponsors (4)

Lead Sponsor	Collaborator
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.	National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), University of California, San Francisco

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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