Biomarker Development in Sturge-Weber Syndrome (Pilot)
This study has been completed.
Sponsor:
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
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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:
Genetic and Rare Diseases Information Center resources:
Klippel-Trenaunay Syndrome
Parkes Weber Syndrome
Weber Syndrome
Sturge-Weber Syndrome
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) |
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) |
| Genders Eligible for Study: | Both |
| 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
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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
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 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 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 September 29, 2016