To be involved with or to support these ongoing research efforts please contact Dr. Comi at comi@kennedykrieger.org.

Biomarker Development Efforts Continue 

We continue to develop new collaborations and to seek additional funding to support our research by applying artificial intelligence for the continued development of brain MRI and quantitative EEG as biomarkers to improve the clinical diagnosis, monitoring and prognosis of patients with SWS and to determine their ability to predict treatment responses. Refer to figure 1 to learn more about these biomarkers. For more information, please reach out and we are happy to share a copy of our recently published review on this topic:

Neuroimaging, EEG, and Angiogenic Biomarker Development in Sturge-Weber Syndrome.
Figure 1: Biomarkers used in SWS, including MRI, EEG, and angiogenic biomarkers. While all these biomarkers are non-invasive and affordable, MRI and EEG biomarkers have shown the most clinical relevance related to SWS. Urine biomarkers still require further research to support its regular use in clinical settings (Gupta et al. Journal of Neurodevelopmental Disorders).

Biomarker Development in Sturge-Weber Syndrome (2025) Gupta SS, Joslyn KE, McKenney KD, Comi AM. Biomarker development in Sturge-Weber syndrome. J Neurodev Disord. 2025;17(1):50. Published 2025 Aug 25. doi:10.1186/s11689-025-09640-6

This review summarizes past, ongoing, and future research needed exploring both diagnostic and prognostic biomarkers aimed to improve clinical care for SWS. SWS requires multidisciplinary monitoring and management, and early identification of the disease can help improve neurological outcomes. The recent advancements in biomarker research may contribute to earlier diagnoses, better prognosis, and allow for improved monitoring of treatment response. See figure 2 to better understand the progression of SWS over a lifetime. Biomarkers, coupled with clinical data, may allow for presymptomatic treatment initiation in infants with SWS, an important avenue of future research.           

Outcomes in Adults with SWS 

Katharine E. Joslyn, Catherine Stephan, Bernard A. Cohen, Stacy J. Suskauer, Courtney L. Kraus, Nara D. Sobreira, Anna L. Grossberg, Anne M. Comi, Andrew T. Zabel   

Sturge-Weber Syndrome progression over years. Developmental phase, followed by pre-symptomatic, symptomatic progressive and symptomatic stable phase. The last phase is late progressive, which begins around age 50.
Figure 2: Typical SWS progression over a lifetime (Valery & Comi, Annals of the Child Neurology Society).

Due to the highly variable nature of SWS, long-term outcomes in adulthood are not well understood. We created a clinical needs assessment and sent it to all adult patients older than 18 years old with SWS to better understand the long-term vocational, educational, overall health and wellbeing, and medical and neurological outcomes in adulthood. Currently, we are gathering data to formulate analyses with the intention of publishing our results. 

Infant Monitoring Device Usage in Infants with Sturge-Weber Syndrome 

Illustration of a sleeping infant with Sturge-Weber syndrome being monitored using an infant monitoring device to detect seizures during the night.
Figure 3: Sleeping SWS infant being monitored using an infant monitoring device to detect seizures during the night.
(Created using Microsoft 365 Copilot).

Katharine E. Joslyn, Ashley N. Eisenberg, Veronica M. Lee, Linda Rozell-Shannon, Anne M. Comi

In this study, we created a clinical questionnaire to gauge parental experience using infant monitoring devices (IMD), like the Owlet and Nanit, and assessed their utility for detecting seizures in infants with SWS. This study is underway.

Sturge-Weber Syndrome Acute Crisis (SWAC) Index 

Kieran D. McKenney, Luther G. Kalb, Adrienne M. Hammill, Anne M. Comi

In this study, we developed the Sturge-Weber Acute Crisis (SWAC) index based on clinical care guidelines and practical experience. This measure, capable of quantifying neurologic symptoms during an SWS acute crisis, was evaluated for its practical application. The SWAC was retrospectively applied to a prospective drug trial, with SWAC scores assigned for every acute crisis during 6-month baseline and treatment phases. This study is underway.

Seizure Susceptibility In SWS Mouse Model

Nicholas Truver, Solomon Comi, Anne Comi 

We recently published a mouse model of SWS, where mice express the GNAQ gene variant responsible for many cases of SWS. Cells from these SWS mice brains have unique cell culture characteristics that we are currently studying.

Illustration of cell culture from SWS mouse model studied in terms of endothelial cell function.
Figure 4: Cell culture from SWS mouse model studied in terms of endothelial cell function. Data collected will contribute to developing novel treatments (Image drawn by A. Manney 2025 in Notability) 

Gene Therapy 

We are currently developing a gene therapy to stop expression of the p.R183Q gene variant. Currently, we are testing the delivery system to ensure the treatment reaches the correct target tissues. We hope this therapy will be able to slow, stop or even reverse the progression of SWS.

Glaucoma Pilot Studies

Illustration of axial length measured in a SWS mouse model.
Figure 6: Axial length measured in a SWS mouse model (Image drawn by A. Manney 2025 in Notability and created using Microsoft 365 CoPilot).

We are measuring axial length and intraocular pressure in our SWS mouse model. Axial length measures how long the eye is, front to back, and higher values are linked to nearsightedness. Intraocular pressure is a measure of the fluid pressure inside the eye. High pressure is linked to glaucoma. We hope to gain a better understanding of the progression of glaucoma and vision problems over the lifespan in patients with SWS