Biomarker Development in Sturge-Weber Syndrome (Pilot)

This study has been completed.

Sponsor:

Collaborators:

National Institutes of Health (NIH)

University of California, San Francisco

National Institute of Neurological Disorders and Stroke (NINDS)

Information provided by (Responsible Party):

Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

ClinicalTrials.gov Identifier:

NCT01345305

First received: April 28, 2011

Last updated: July 31, 2013

Last verified: July 2013

History of Changes

Purpose

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:

Quantitative EEG
Transcranial Doppler
Medical Rehabilitation Scales
Optical Coherence Tomography

Condition
Sturge-Weber Syndrome


Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Prospective
Official Title:	Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development

Resource links provided by NLM:

Genetics Home Reference related topics: Klippel-Trenaunay syndrome Parkes Weber syndrome Sturge-Weber syndrome

Genetic and Rare Diseases Information Center resources: Weber Syndrome Klippel-Trenaunay Syndrome Parkes Weber Syndrome Sturge-Weber Syndrome

U.S. FDA Resources

Further study details as provided by Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:

Primary Outcome Measures:

Primary outcome [ Time Frame: 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.


Enrollment:	40
Study Start Date:	July 2010
Study Completion Date:	November 2012
Primary Completion Date:	November 2012 (Final data collection date for primary outcome measure)

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:

Quantitative EEG
Transcranial Doppler
Medical Rehabilitation Scales
Optical Coherence Tomography The first step of this process is to determine how much the results of these tests vary between individual tests.

Eligibility


Ages Eligible for Study:	6 Months to 21 Years (Child, Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

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 portwine 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)

Criteria

Inclusion Criteria:

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)

Exclusion Criteria:

Subjects unable to cooperate with the studies will be excluded.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01345305

Locations


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

Sponsors and Collaborators

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

National Institutes of Health (NIH)

University of California, San Francisco

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators


Principal Investigator:	Anne Comi, M.D.	Hunter Nelson Sturge-Weber Center

More Information


Responsible Party:	Anne Comi, MD, Associate Professor, Neurology and Developmental Medicine, Kennedy Krieger Institute, Johns Hopkins University, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
ClinicalTrials.gov Identifier:	NCT01345305 History of Changes
Other Study ID Numbers:	NA_00043846 BVMC6204 ( Other Identifier: Rare Diseases Clinical Research Network ) U54NS065705-02 ( U.S. NIH Grant/Contract )
Study First Received:	April 28, 2011
Last Updated:	July 31, 2013

Keywords provided by Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:


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

Additional relevant MeSH terms:


Klippel-Trenaunay-Weber Syndrome Sturge-Weber Syndrome Syndrome Brain Stem Infarctions Disease Pathologic Processes Brain Infarction Brain Ischemia Cerebrovascular Disorders Brain Diseases Central Nervous System Diseases	Nervous System Diseases Stroke Vascular Diseases Cardiovascular Diseases Angiomatosis Hemangioma Neoplasms, Vascular Tissue Neoplasms by Histologic Type Neoplasms Neurocutaneous Syndromes

ClinicalTrials.gov processed this record on August 16, 2017

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