Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
Text Size

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:

  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:

U.S. FDA Resources

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

Primary Outcome Measures:
  • Primary outcome [ Time Frame: 2 years ] [ Designated as safety issue: No ]
    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:

  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
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

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: July 31, 2013
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
Angiomatosis
Cardiovascular Diseases
Hemangioma
Neoplasms
 Neoplasms by Histologic Type
Neoplasms, Vascular Tissue
Nervous System Diseases
Neurocutaneous Syndromes
Vascular Diseases

ClinicalTrials.gov processed this record on March 03, 2015