Sturge-Weber SyndromeNCT01425944
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
An observational study of Sturge-Weber Syndrome, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. at 7 sites in United States.
Trial summary
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients. Read more about this study
- Who is it for?
- Ages 1 month and olderHealthy volunteers can take part
- Conditions the study is for
- Sturge-Weber Syndrome
- How many people
- 600 participants
- Where
- 7 sitesUnited States
- Study dates
- Sep 2010to 9 Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 1 month and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: For Aim 1, the population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. There will be a separate group made up of family members of those with Sturge-Weber syndrome brain involvement to have as a control for the urine portion of Aim 1. For the optical coherence tomography (OCT) portion of Aim 1, the population will be subjects with Sturge-Weber Syndrome eye involvement. For Aim 2, the population will be subjects that have Sturge-Weber Syndrome with brain involvement. For Aim 3, the population will be subjects with Sturge-Weber Syndrome, diagnosed brain involvement, and V1 distribution Port-Wine Stain.
Who may be able to join
- For Aim 1:
- For main sample:
- Sturge-Weber syndrome
- Diagnosed brain Involvement
- For Control:
- Family member of participating SWS patient
Show all 15Show fewer
- For OCT:
- Sturge-Weber syndrome eye involvement
- For Aim 2:
- Sturge-Weber syndrome
- Diagnosed Brain Involvement
- For Aim 3:
- Sturge-Weber syndrome
- Diagnosed brain Involvement
- Port-Wine Stain in V1 and/or V2 areas of face.
Who cannot join
- Not Diagnosed with Sturge-Weber syndrome with brain Involvement (or eye involvement for OCT)
- For Aim 1:
- Family member must not have certain medical conditions. A list will be provided before consent is given.
- For Aim 3:
- Not Diagnosed with Sturge-Weber syndrome with brain Involvement
- No Port-Wine Stain
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
United States7 sites
Kennedy Krieger Institute
Baltimore, Maryland, 21205
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
Nationwide Children's Hospital
Columbus, Ohio, 43205
Wayne State University/Children's Hospital of Michigan
Detroit, Michigan, 48201
Baylor College of Medicine/Texas Children's Hospital
Houston, Texas, 77030
New York University
New York, New York, 10016
Wills Eye Institute
Philadelphia, Pennsylvania, 19107
About this study
Official title: The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.
Read the detailed description
This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome.
We plan to improve the future understanding and treatment of Sturge-Weber Syndrome by 1) establishing a national consortium database which will gather lager amounts of clinical data and serve indirectly as a registry to foster future clinical trials and determine the usefulness of urine vascular biomarkers to determine the vascular remodeling of the SWS birthmark and choroidal angioma, 2) study vascular remodeling with retrospective and prospective neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status, and 3) relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue.
- Conditions
- Sturge-Weber Syndrome
- Keywords
- Sturge Weber Syndrome, Biomarkers, DNA arrays, brain vessel malformations
- Medical subject headings
- Sturge-Weber Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Aim 1
Descriptive statistics for the national database, correlation between neurologic score and urine angiogenesis factor, and correlation between PWS (port-wine stain) attributes, urine vascular factors, and neuroscore
Measured: All 5 years
Aim 2
Correlation between neuroscore and degree of collateral venous vessel opening
Measured: All 5 years
Aim 3
Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins
Measured: All 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Aug 2011 (estimated)
- Study startSep 2010
- Primary completionDec 2025
- Study completion9 Feb 2027 (estimated)
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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 600 participants (estimated)
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), Duke University, Children's Hospital of Michigan, Baylor College of Medicine, Wills Eye, Nationwide Children's Hospital, New York University, Children's Hospital Medical Center, Cincinnati
- Responsible party
- Principal investigator, Anne Comi, MD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Investigators
- Anne M Comi, M.D., Principal investigator, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01425944
- Sponsor's protocol ID
- NA_00038014
- Other IDs
- U54NS065705-02, BVMC6202, BVMC6208
- Status last verified
- Feb 2026
- First submitted
- 29 Aug 2011
- Last updated
- 2 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
- ClinicalTrials.gov ID
- NCT01425944
- Acronym / sponsor ID
- NA_00038014
- Conditions
- Sturge-Weber Syndrome
- Keywords
- Sturge Weber Syndrome, Biomarkers, DNA arrays, brain vessel malformations
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 600 participants (estimated)
- 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), Duke University, Children's Hospital of Michigan, Baylor College of Medicine, Wills Eye, Nationwide Children's Hospital, New York University, Children's Hospital Medical Center, Cincinnati
- Study start
- Sep 2010 (actual)
- Primary completion
- Dec 2025 (actual)
- Study completion
- 9 Feb 2027 (estimated)
- First posted
- 30 Aug 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 study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.
Detailed description
This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome.
We plan to improve the future understanding and treatment of Sturge-Weber Syndrome by 1) establishing a national consortium database which will gather lager amounts of clinical data and serve indirectly as a registry to foster future clinical trials and determine the usefulness of urine vascular biomarkers to determine the vascular remodeling of the SWS birthmark and choroidal angioma, 2) study vascular remodeling with retrospective and prospective neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status, and 3) relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 1 month and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- For Aim 1, the population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. There will be a separate group made up of family members of those with Sturge-Weber syndrome brain involvement to have as a control for the urine portion of Aim 1. For the optical coherence tomography (OCT) portion of Aim 1, the population will be subjects with Sturge-Weber Syndrome eye involvement. For Aim 2, the population will be subjects that have Sturge-Weber Syndrome with brain involvement. For Aim 3, the population will be subjects with Sturge-Weber Syndrome, diagnosed brain involvement, and V1 distribution Port-Wine Stain.
Key inclusion criteria (15 listed)
- Sturge-Weber syndrome
- Diagnosed brain Involvement
- Family member of participating SWS patient
- Sturge-Weber syndrome eye involvement
- Sturge-Weber syndrome
Key exclusion criteria (6 listed)
- Not Diagnosed with Sturge-Weber syndrome with brain Involvement (or eye involvement for OCT)
- Family member must not have certain medical conditions. A list will be provided before consent is given.
- Not Diagnosed with Sturge-Weber syndrome with brain Involvement
- No Port-Wine Stain
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
Aim 1
Time frame: All 5 years
Descriptive statistics for the national database, correlation between neurologic score and urine angiogenesis factor, and correlation between PWS (port-wine stain) attributes, urine vascular factors, and neuroscore
Aim 2
Time frame: All 5 years
Correlation between neuroscore and degree of collateral venous vessel opening
Aim 3
Time frame: All 5 years
Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Mar 2026.
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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
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
7 sites 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 7 sites 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 15 inclusion and 6 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: under way, not looking for participants, as of the sponsor's last update on 2 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites 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?
This study is still under way. Results are not available in the source record yet.
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?
Aim 1 (time frame: All 5 years). The study lists 3 primary outcomes in all. 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 2 Mar 2026.