An observational study in Sturge-Weber Syndrome, sponsored by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.. Active, not recruiting at 7 sites in United States. Open to participants aged 1 Month and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-03-02.
Sponsored by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Observational
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.
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.
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.
For Aim 1:
For main sample:
For Control:
For OCT:
For Aim 2:
For Aim 3:
Exclusion Criteria:
For Aim 1:
For Aim 3:
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
Time frame: All 5 years
Aim 2
Correlation between neuroscore and degree of collateral venous vessel opening
Time frame: All 5 years
Aim 3
Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins
Time frame: All 5 years
This study is active, not recruiting, as verified in Feb 2026. You cannot join it, but the record below documents what was studied.
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Sturge-Weber Syndrome
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.