Studies to Improve Clinical Care of Sturge-Weber Syndrome:

New Drug Screening Program for Sturge-Weber Syndrome

Following the exciting discovery at the Kennedy Krieger Institute of the somatic mutation in the GNAQ gene causing Sturge-Weber syndrome, we have developed lab-based research to test novel drugs in cells with the mutation. This new program will likely provide important new treatment strategies for testing in the future. Funding is urgently needed to maintain and expand this groundbreaking work. If you would like to become more involved, please contact Jen Doyle in the Office of Philanthropy at 443-923-4324 or make your gift online.

New Clinical Drug Trials For Sturge-Weber Syndrome

We have published our first clinical drug trail in Sturge-Weber syndrome, Epidiolex. Our second drug trial on Sirolimus has completed recruitment. The data we have collected thus far is being analyzed, and planning for a second phase of this trial is underway. If you’d like more information on the second trial of Sirolimus, contact

Studies to Improve the Diagnosis and Monitoring of Sturge-Weber Syndrome:

NA_00038014, BVMC 6202: Innovative approaches to gauge progression of Sturge-Weber Syndrome - Renewal 1 Projects

Sturge-Weber Center at the Kennedy Krieger Institute has received a second round of funding from the Brain Vascular Malformation Consortium (BVMC). The BVMC is a collection of academic medical centers, patient support groups, and clinical research resources dedicated to conducting clinical research on different forms of brain vascular malformations, including Sturge-Weber syndrome (SWS).

Aim 1 - 

1a) Standardized Sturge-Weber syndrome registry and clinical database. A centralized database and registry is needed to better understand Sturge-Weber syndrome and foster future clinical research. This national database is de-identified and housed at the University of South Florida. D​​​​​​data has been analyzed and the research has been published.

1b) Urine Biomarkers in Sturge-Weber syndrome. This project continues to collect urine samples from those with Sturge-Weber syndrome and family members. Urine has the potential to be an indicator for disease progression when compared to family members. Differences among gender, age, extent of port-wine stain, and severity of clinical neurological functioning have been discovered based on different urine biomarker factors. Data on port wine scoring subject has been published and remaining data is being analyzed.

1c) Imaging of the eye in Sturge-Weber syndrome. Optical coherence tomography (OCT) images the tissue lining in the back of the eye using light waves, a clinical indication of eye prognosis in Sturge-Weber syndrome. We are currently recruiting participants for this aim.

Aim 2 – Imaging of the brain in Sturge-Weber syndrome. Neuroimaging scans provide a detailed view into the inner workings of Sturge-Weber syndrome brain involvement. Enrollment has been completed for this study. Analysis for publication is underway.

Aim 3 – Tissue Sampling in Sturge-Weber syndrome. In skin and brain tissue of those with Sturge-Weber syndrome, there is a mix of mutant and non-mutant cells. Since our discovery of the SWS-gene mutation, our new detection method has the ability to help identify only the cells with the SWS-causing somatic mutation. Enrollment has been completed for both skin and brain tissue sampling. Analysis is underway. A manuscript has been published for brain tissue sampling.

NA_00043846, BVMC 6204: Establishing reliability for Quantitative EEG, Transcranial Doppler, behavioral outcomes, and Optical Coherence Tomography in SWS

Multidisciplinary protocol to address the pathophysiology of Sturge-Weber Syndrome

Our goal is to develop methods to improve early diagnosis, to monitor response to treatment, and to predict functional outcome of SWS.

Aim 1 - Quantitative EEG. Diagnosing brain involvement in infants with a facial Port-wine birthmark is complicated by the low sensitivity of neuroimaging at young age. qEEG may be a useful biomarker for SWS brain involvement, especially for young patients, as an alternative to MRIs or CTs. Recruitment from this study is complete and data analysis is ongoing.A manuscript with data has been published.

Aim 2 - Transcranial Doppler. Asymmetry in blood flow velocity, as seen on transcranial Doppler ultrasounds, may correlate with neurologic progression. Transcranial Doppler ultrasound holds promise in assessing the risk of stroke among SWS patients. This study is complete and a manuscript has been published.

Aim 3 - Medical Rehabilitation Scales. Hemiparesis and fine motor skills are often problematic for SWS patients. A variety of clinical medical rehabilitation scales, may help assess functional skills and mobility issues among SWS patients. These scales may serve as practical methods for evaluating SWS progression and response to treatment.

This study is complete and the following manuscript has been published:

Reidy TG, Suskauer SJ, Bachur CD, McCollough C, Comi AM. Preliminary Reliability and Validity of a Battery for Assessing Functional Skills in Children with Sturge-Weber Syndrome. Childs Nerv Syst. 2014;30:2027-36. doi: 10.1007/s00381-014-2573-6

Aim 4 - Optical Coherence Tomography. Glaucoma is associated with the presence of a Port-wine facial birthmark around the eye region. Optical coherence tomography is a non-invasive measure that could prove useful in assessing eye pressure in SWS.

This study is complete and the following manuscript has been published: Karun SA, Quigley HA, Comi A, Rhonda BM, Jampel. Increased Choroidal Thickness in Patients with Sturge-Weber Syndrome. JAMA Opthalmology. 2013;131:1216-9. doi: 10.1001/jamaophthalmol.2013.4044

(IRB00266516, BVMC 6211) Brain Vascular malformation Consortium: Project 2 -  Integrated longitudinal studies to identify biomarkers and therapeutic strategies for Sturge-Weber Syndrome:

We are currently recruiting participants for this study. 

Aim 1: Develop a longitudinal database of patients with SWS

Aim 1a) Retrospective data: Integrated, longitudinal dashboard is necessary in studying predictors of at-risk patients most likely to have serious neurological symptoms and identify their current treatments.

Aim 1b) Prospective data: Clinical data is prospectively collected for patients who present with a new, serious neurological symptoms until 6 months prior to study termination. 

Aim 2: Longitudinal Quantitative MRI

MRI is reviewed for clinical and radiological diagnosis of SWS and to evaluate extent and severity of brain involvement. MRI scans of participants who are rescanned as part of their standard of care at the time of acute exacerbation of clinical symptoms are reviewed for changes.  

Aim 3: Blood Samples for Analysis

Blood samples are collected at initial enrollment and when patients present with acute exacerbation of clinical symptoms including severe seizures, headaches, or stroke-like episodes. Collected blood samples are analyzed for potential blood biomarkers to track clinical progression of SWS.

(IRB00176284) Sturge-Weber Syndrome pluripotent stem cell and blood biomarker development

The goal of this research is to develop cell models of Sturge-Weber syndrome, as cell models can be used to develop new, targeted treatments. This research will also develop new tests to measure treatment responses in, determine prognosis of, and better understand how SWS causes health problems. We are currently recruiting participants for this study.

Clinical EEG's and Their Correlations:

We seek to uncover the way clinical EEG reading is associated with our monitoring of SWS clinical outcomes.

Noninvasive Imaging and Functional Correlation of Intracranial Pial Angiomatosis in Patients With Sturge-Weber Syndrome

Principal Investigator: Doris Lin, MD, PhD
Co-investigators: Anne Comi, M.D. & Peter Barker, D. Phil.

This study is an important component in our work to discover better ways to use MRI imaging to diagnose and monitor Sturge-Weber syndrome.

Children (age 8 and greater) and adults with Sturge-Weber syndrome: Participants have an imaging study of the brain and a neuropsychological evaluation to see how the vascular structures and blood flow are changed by Sturge-Weber syndrome.

Quantitative EEG Study

Principal Investigator: Anne Comi, MD and Joshua Ewen, M.D.

The purpose of this study is to determine whether quantitative EEG can improve early screening of SWS brain involvement in at-risk infants with a V1 facial port-wine birthmark and to determine if it will help us safely monitor response to treatment.

We have been developing quantitative EEG (see our initial study in the completed study section) as a safe tool to screen infants with a facial Port-wine birthmark for brain involvement and for monitoring neurologic progression. This involves a routine EEG that is analyzed in a special way to evaluate for abnormal asymmetry in power.  

A Manuscript has been published: Gill RE, Tang B, Smegal L, Adamek JH, McAuliffe D, Lakshmanan BM, et al. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Clin Neurophysiol. 2021;132(10):2440-6.

Doppler and ultrasound studies of the eye in Sturge-Weber syndrome

Principal Investigator: Anne Comi, MD

The purpose of this study is to develop the optimal use of Doppler and ultrasound for the understanding of abnormal blood flow in the eye and for monitoring progression in SWS.

This study is retrospectively reviewing the results of Doppler and ultrasound studies done as part of the clinical evaluation of patients with SWS and eye involvement. Analyzing these studies in large numbers of patients with SWS will improve our understanding of the blood flow dynamics in the eye and how they change over time and in response to treatment.

We have published the following manuscript related to Doppler: Jordan LC, Wityk RJ, Dowling MM, DeJong MR, Comi AM. Transcranial Doppler ultrasound in children with Sturge-Weber syndromeJ Child Neurol. 2008 Feb;23(2):137-43.

Neuropsychological Testing

Principal Investigator: Anne Comi, MD and Andrew Zabel, Ph.D.

The purpose of this study is to better delineate the range of cognitive deficits in SWS and understand how this is associated with the extent of brain involvement and other neurologic issues.

This testing is designed to measure how well a person performs on various tasks, including memory, language, attention, and learning. Some tests may involve writing or saying the answers to questions. Other tests may involve drawing pictures or performing tasks like putting objects in order.

Studies to Better Understand the Pathogenesis (Cause) of Sturge-Weber Syndrome

These studies are conducted as part of The Sturge-Weber Syndrome and Ischemia in the Immature Brain Research Program at Kennedy Krieger Institute.