ClinicalTrials.gov
ClinicalTrials.gov Menu

Biomarker Development in Sturge-Weber Syndrome (Pilot)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01345305
Recruitment Status : Completed
First Posted : May 2, 2011
Last Update Posted : August 1, 2013
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.

Study Description
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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

Condition or disease
Sturge-Weber Syndrome

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.

Study Design
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type : Observational
Actual Enrollment : 40 participants
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
Study Start Date : July 2010
Actual Primary Completion Date : November 2012
Actual Study Completion Date : November 2012

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information


Outcome Measures
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. 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.


Eligibility Criteria
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

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, Learn About Clinical Studies.


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
  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
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations 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 )
First Posted: May 2, 2011    Key Record Dates
Last Update Posted: August 1, 2013
Last Verified: July 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