Sturge-Weber SyndromePilotNCT01345305
Biomarker Development in Sturge-Weber Syndrome
An observational study of Sturge-Weber Syndrome, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. at 1 site in United States.
Trial 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 Read more about this study
- Who is it for?
- Ages 6 months to 21 years
- Conditions the study is for
- Sturge-Weber Syndrome
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2010to Nov 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
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)
Who may be able to join
- 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)
Who cannot join
- Subjects unable to cooperate with the studies will be excluded.
Trial locations and contacts
1 site in 1 country.
United States1 site
Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute
Baltimore, Maryland, 21205
About this study
Official title: Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development
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
Read the 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.
- Conditions
- Sturge-Weber Syndrome
- Keywords
- Sturge-Weber Syndrome, Biomarkers, Quantitative EEG, Transcranial Doppler Ultrasound, Medical Rehabilitation Scales, Optical Coherence Tomography
- Medical subject headings
- Sturge-Weber Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary outcome
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 May 2011 (estimated)
- Study startJul 2010
- Primary completionNov 2012
- Study completionNov 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sturge-Weber SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), University of California, San Francisco, National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Principal investigator, Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Investigators
- Anne M Comi, M.D., Principal investigator, Hunter Nelson Sturge-Weber Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01345305
- Sponsor's protocol ID
- NA_00043846
- Other IDs
- BVMC6204, U54NS065705-02
- Acronym
- Pilot
- Status last verified
- Apr 2020
- First submitted
- 28 Apr 2011
- Last updated
- 16 Apr 2020
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development
- ClinicalTrials.gov ID
- NCT01345305
- Acronym / sponsor ID
- Pilot / NA_00043846
- Conditions
- Sturge-Weber Syndrome
- Keywords
- Sturge-Weber Syndrome, Biomarkers, Quantitative EEG, Transcranial Doppler Ultrasound, Medical Rehabilitation Scales, Optical Coherence Tomography
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.University, hospital or other
- Collaborators
- National Institutes of Health (NIH), University of California, San Francisco, National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Jul 2010
- Primary completion
- Nov 2012 (actual)
- Study completion
- Nov 2012 (actual)
- First posted
- 2 May 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 months to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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)
Key inclusion criteria (5 listed)
- 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)
Key exclusion criteria (1 listed)
- Subjects unable to cooperate with the studies will be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2020.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Anne M Comi, M.D. principal investigator
Hunter Nelson Sturge-Weber Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sturge-Weber Syndrome, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Apr 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary outcome (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Apr 2020.