Biomarker Development in Sturge-Weber Syndrome

NCT01345305 | Completed

• 3 other identifiers: NA_00043846BVMC6204U54NS065705-02
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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. 1.Quantitative EEG
2. 2.Transcranial Doppler
3. 3.Medical Rehabilitation Scales
4. 4.Optical Coherence Tomography

Conditions

Sturge-Weber Syndrome

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 6 Months - 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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)

You may qualify if:

• 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.
• 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
• Able (or parents able) to provide informed consent
• Able to cooperate with tests
• Age 6 months to 21 years (Aims 1-3 only)

You may not qualify if:

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

Sponsors & Collaborators

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.: lead
• National Institutes of Health (NIH): collaborator
• University of California, San Francisco: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

MeSH Terms

Conditions

Sturge-Weber Syndrome

Condition Hierarchy (Ancestors)

Hemangioma; Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Anne M Comi, M.D.

  Hunter Nelson Sturge-Weber Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Neurology and Developmental Medicine, Kennedy Krieger Institute, Johns Hopkins University

Study Record Dates

• First Submitted: April 28, 2011
• First Posted: May 2, 2011
• Study Start: July 1, 2010
• Primary Completion: November 1, 2012
• Study Completion: November 1, 2012
• Last Updated: April 16, 2020

Record last verified: 2020-04

Locations

US (1)