Sturge-Weber Syndrome Center: Ongoing Research Studies
Our current research continues to build upon our past research and focuses on validating the new screening tools developed, evaluating the new treatment strategies offered, and continuing the challenging effort to determine what causes SWS.
The long-term vision for our research is the development of multi-centered clinical trials and research efforts. To that end, we welcome collaborations with other centers and foundations. Only by bringing together the resources, expertise, patients and people from around the country and the world, can we maximize the efforts already made to better treat and prevent SWS.
Please note that this information is provided for informational purposes only to those interested in supporting our work and is not for recruitment.
If you would like to participate in a study, please visit the recruiting studies page. For more information, call Dr. Anne Comi at (443) 923-9150 or email: comi@kennedykrieger.org.
Read about our studies to:
Studies to Improve Clinical Care of Sturge-Weber Syndrome
Use of the Atkins diet for children with Sturge-Weber Syndrome
Principal Investigator: Eric Kossoff, MD
The Atkins diet is a potential future therapy for the treatment of seizures in SWS.
This study will determine how patients with Sturge-Weber syndrome and epilepsy respond to the Atkins diet. This research is important because the Atkins diet is a potential future therapy for the treatment of seizures in SWS.
Case Studies of Neurologic Deterioration in Patients with Sturge-Weber Syndrome
Principal Investigator: Anne Comi, MD
This study will help us to understand the relationship between severe seizures and neurologic injury in Sturge-Weber syndrome and give us insights into how better to approach their treatment.
Patients seen at the SWSC who had a definite diagnosis for SWS with accompanying seizures, brain involvement, and regression were contacted via telephone by a member of the study team. They were asked a series of questions about their or their child’s seizure episodes and experiences with regression. The aim of these questions was to confirm the medical information in their charts and to pinpoint additional details about seizure episode(s) and regression.
Impact of laser therapy upon eye pressure and glaucoma status
This data is needed to guide optimal timing and use of laser in the treatment of patients with or at-risk for Sturge-Weber syndrome.
Dr. Parsa recently published (see complete studies page) a new hypothesis outlining how blood flow in the brain may interact with that in the eye and the skin in SWS and suggesting possible implications for therapy. We have been carrying out research to test these hypotheses. In one project we are retrospectively studying the results of eye pressure checks incorporated into the routine laser treatment. In a second related study, we are requesting, with patient and parent consent, the charts from eye evaluations and tracking the results of eye evaluations during the course of laser treatments. From these studies we aim to provide data to guide the management of facial port-wine birthmarks.
Chart review of Ear, Nose, and Throat (ENT) Issues
Principal Investigator: Anne Comi, MD
This work will determine what types of ENT issues affect patients with Sturge-Weber syndrome the most. We will publish this series in order to highlight how ENT issues can impact the neurologic status of the individual with SWS.
We reviewed charts of patients who were seen by Dr. Comi and the Sturge-Weber syndrome Center for this study. These patients or their parents had previously consented to the use of their clinical information under the protocol # 04-03-24-01 “Multidisciplinary protocol to address the pathophysiology of Sturge-Weber syndrome” of which Dr. Comi is also the principal investigator. Patients who had a definite diagnosis for SWS with ENT issues were selected as potential subjects for this study. We created a database containing these patients’ ENT information, and patients’ Sturge-Weber symptoms.
Survey of low-dose aspirin use in patients with Sturge-Weber syndrome
This study will allow us to assess how many of a relatively large number of subjects are using low-dose aspirin, what the qualitative response to treatment has been, and what the common side effects or complications have been. These data will guide our use of low-dose aspirin and plans for clinical trials.
Low-dose aspirin remains a controversial therapy for the treatment of Sturge-Weber syndrome. We posted an online survey with questions regarding the impact of low-dose aspirin upon the neurologic, eye and skin manifestations of SWS and asking about any side effects or complications. These results are now being analyzed and prepared for publication.
Retrospective review of behavioral and psychiatric issues in Sturge-Weber syndrome
This research will enable healthcare providers, patients and families to have an understanding of the range of issues encountered in association with SWS and their relationship with the extent of brain and neurologic involvement. Future work will examine and publish successful treatment strategies.
Very little data exists in the literature to guide the management of behavioral, mood or other psychiatric issues in patients with SWS. Therefore, we have compiled our experience to data in a group of children and adults with SWS and are summarizing these findings for publication.
Endocrine Issues in Sturge-Weber syndrome
This research has and will continue to provide new recommendations for the optimal clinical care of patients with SWS.
We recently published studies demonstrating an increased prevalence of growth hormone deficiency in SWS and the need to test for and treat central hypothyroidism in some patients with SWS. We continue to screen for and treat these and other endocrine issues in patients with SWS as the clinical need arises and will publish our experience and research in this area so that this new aspect of SWS will be more fully understood and appropriately treated.
Studies to Improve the Diagnosis and Monitoring of Sturge-Weber Syndrome
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 with 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.
iTRAQ Protein Analysis of Fibroblasts Derived From Individuals With Sturge-Weber Syndrome
This research is important because it holds promise for shedding light on protein pathways that are abnormally regulated in SWS and might be amenable to treatment or provide clues to the cause of SWS.
Based on the hypothesis that SWS may be caused by a somatic mutation during early pregnancy, skin biopsies were taken from affected and unaffected skin and used to generate fibroblast cell lines. A state-of-the-art technique called iTRAQ protein spectrometry was then used to compare the levels of protein expression in pairs of affected versus unaffected fibroblasts from the same individuals. High-quality data was generated from this analysis and proteins that were significantly regulated in 2 or more of the pairs are currently being studied for the protein pathways involved and how they might be involved in the pathogenesis of SWS. This work continues in collaboration with the Watkins laboratory at the Kennedy Krieger laboratory and Cole laboratory at Johns Hopkins.
DNA Array Analysis Searching for Somatic Mutation in Sturge-Weber Syndrome
Without knowing what causes SWS or what genes are involved we are unable to develop a true animal model to test preventative or treatment strategies. Therefore, discovering the cause of SWS remains a challenging but high priority goal of this research.
The cause of SWS is unknown, however one of the leading hypotheses is a somatic mutation occurring in the first trimester of pregnancy. If this hypothesis is true then we may be able to discover this somatic mutation using powerful DNA array technology. We have already done some pilot work in this area. Below is shown data from a DNA array comparing DNA from affected and unaffected samples from the same individual with SWS. More powerful, larger DNA arrays have recently been developed and it is our goal to continue this challenging search with the latest technology in collaboration with the Pevsner laboratory at the Kennedy Krieger Laboratory.
Boston Urine Testing
The purpose of this study is to determine if urine vascular factors in SWS can help us understand more about the pathogenesis of SWS and whether it can be used to monitor response to treatment or predict outcome.
This study is measuring blood vessel factors in the urine of individuals with Sturge-Weber syndrome in collaboration with the laboratory of Dr. Marsha Moses. Urine vascular biomarkers have been developed for other vascular malformations to monitor response to treatment or predict disease severity and we are working on similar progress with Sturge-Weber syndrome.
Please see our Completed Research page for abstracts of recently published papers by Center members.