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Biomarker Development in Sturge-Weber Syndrome (Pilot)

This study is currently recruiting participants.
Verified February 2012 by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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: February 16, 2012
Last verified: February 2012
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:

  1. Quantitative EEG
  2. Transcranial Doppler
  3. Medical Rehabilitation Scales
  4. 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:

MedlinePlus related topics: Rehabilitation
U.S. FDA Resources

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

Estimated Enrollment: 40
Study Start Date: July 2010
Estimated Study Completion Date: December 2012
Estimated Primary Completion Date: December 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:

  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.
  Eligibility

Ages Eligible for Study:   6 Months to 21 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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)
Criteria

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

Contacts
Contact: Aditya K. Sreenivasan, B.A. 443-923-9569 Sreenivasan@kennedykrieger.org
Contact: Kira Lanier, B.A. 443-923-9127 LanierK@kennedykrieger.org

Locations
United States, Maryland
Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute Recruiting
Baltimore, Maryland, United States, 21205
Contact: Aditya K. Sreenivasan, B.A.     443-923-9569     Sreenivasan@kennedykrieger.org    
Contact: Kira Lanier, B.A.     443-923-9127     LanierK@kennedykrieger.org    
Principal Investigator: Anne Comi, M.D.            
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

No publications provided

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, U54NS065705-02
Study First Received: April 28, 2011
Last Updated: February 16, 2012
Health Authority: United States: Federal Government

Keywords provided by 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
Neurocutaneous Syndromes
Brain Stem Infarctions
Angiomatosis
Vascular Diseases
Cardiovascular Diseases
Hemangioma
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms
Nervous System Diseases
Ectodermal Dysplasia
 Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Brain Infarction
Brain Ischemia
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Stroke

ClinicalTrials.gov processed this record on May 16, 2013