Biomarker Development in Sturge-Weber Syndrome

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01345305

Acronym

Pilot

Enrollment

Registered

2011-05-02

Start date

2010-07-31

Completion date

2012-11-30

Last updated

2020-04-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Sturge-Weber Syndrome

Keywords

Sturge-Weber Syndrome, Biomarkers, Quantitative EEG, Transcranial Doppler Ultrasound, Medical Rehabilitation Scales, Optical Coherence Tomography

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Months to 21 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Primary outcome	2 years	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.

Countries

United States

Outcome results