Current Research Studies

Read about our studies to:

Improve Clinical Care of Sturge-Weber syndrome
Improve Diagnosis and Monitoring of Sturge-Weber syndrome
Better Understand the Pathogenesis (Cause) of Sturge-Weber Syndrome

STUDIES TO IMPROVE CLINICAL CARE OF STURGE-WEBER SYNDROME

Anticonvulsant Sturge-Weber syndrome Database Has Been Built

Patients with SWS are often prescribed one or several seizure (anticonvulsant) medications. Our current study seeks to examine these different anticonvulsants, their side effects and the associated clinical outcomes.  The database of our experience over the past several years has been built, and it is currently being analyzed.  Stay tuned!

New Drug Screening Program for Sturge-Weber syndrome

Following the exciting recent discovery at the Kennedy Krieger Institute of the mutation 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 currently needed to maintain and expand this work-if you are interested in helping, please donate at…..

New Clinical Drug Trials For Sturge-Weber syndrome

Planning for 2 new clinical drug trials for Sturge-Weber syndrome is currently underway.  The first one will open soon, so contact Dr. Comi at 443-923-9127 or Sturgeweber@kennedykrieger.org for more information or to find out how you can help.


STUDIES TO IMPROVE THE DIAGNOSIS AND MONITORING OF STURGE-WEBER SYNDROME

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

Aim 1 - 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. The recruiting centers continue to add subjects and are beginning to analyze data collected to date.

Aim 2 - Urine angiogenesis biomarkers. This study continues to collect samples to develop urine factors as biomarkers for clinical treatment and drug trials in Sturge-Weber syndrome.

Aim 3 - Somatic mutation causing SWS.  This work is completed! The somatic mutation in a gene called GNAQ was discovered here at the Kennedy Krieger Institute!  Thanks to all who donated tissue or funds to the Center and helped us to accomplish this amazing goal! Now this work proceeds to discovering new treatments.

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

qeeg

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 in ongoing.

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. Recruitment from this study is complete and data analysis in ongoing.

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. The manuscript for this study is nearly complete.

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 is assessing eye pressure in SWS.

This study is completed and the following manuscript is in press: Karun SA, Quigley HA, Comi A, Rhonda BM, Jampel. Increased Choroidal Thickness in Patients with Sturge-Weber Syndrome. JAMA Opthalmology. In Press

For more information on our NIH-funded BVMC 6202, and BVMC 6204 please see the following in:

http://www.kennedykrieger.org/node/1754
http://rarediseasesnetwork.epi.usf.edu/
http://rarediseasesnetwork.epi.usf.edu/BVMC/professional/SWS/index.htm

Clinical EEGs and their correlations

brain-scan

We are seeking to uncover the way that 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: Dr. Anne Comi & Dr. Peter Barker

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 to see how the vascular structures and blood flow are changed by Sturge-Weber syndrome.

Quantitative EEG Study

Principal Investigator: Anne Comi, MD

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.

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.

Neuropsychological Testing

Principal Investigator: Anne Comi, MD 

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.