The groundbreaking identification of the gene that causes Sturge-Weber syndrome was discovered at the Kennedy Krieger Institute in 2013 by Dr. Anne Comi and her collaborators.

The discovery of the gene that causes SWS has drastically revolutionized our medical understanding of SWS and has laid the groundwork for clinical trials. Dr. Comi has since carried out a successful clinical trial of Epidiolex for medically refractory seizures in SWS and a trial of oral sirolimus for cognitive impairments in SWS. Recently, she also completed a clinical trial of Epidiolex for addressing cognitive impairments related to SWS. Learn more about these clinical trials under our completed research studies.

2024 Research Highlights

2023 Research Highlights

2022 Research Highlights

2021 Research Highlights

2020 Research Highlights

2019 Research Highlights

NIH-Funded Clinical Studies of Sturge-Weber Syndrome Continue

Please note that this information is provided for informational purposes only to those interested in supporting our work and is not for study recruitment.

The long-term goal of our research efforts is the development of newer and more effective treatments for SWS. To that end, we welcome collaborations with other centers and foundations. Only by bringing together resources, expertise, patients, and providers from around the country and the world, can we maximize the efforts and discoveries made to better prevent disease progression and treat patients with SWS. The Hunter Nelson Sturge-Weber Center aims to develop new research questions and novel treatment strategies, encouraging its members to publish their clinical experience and research so that patients and physicians can benefit from their work. 

Our research has three main goals:

  1. To improve the clinical care of patients with Sturge-Weber syndrome (SWS)
  2. To improve diagnosis and monitoring of SWS
  3. To develop novel treatments to prevent progression of disease in SWS  

Read about our current 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

View Current Research Studies

Read about our completed studies to:

  • Study the safety of sirolimus for the treatment of cognitive impairments in Sturge-Weber syndrome brain involvement
  • Improve Diagnosis and Monitoring of Sturge-Weber syndrome
  • Improve Clinical Care of Sturge-Weber syndrome
  • Better Understand the Pathogenesis (Cause) of Sturge-Weber syndrome

View Completed Research Studies
 

If you would like to participate in a study or for more information, call Dr. Anne Comi at (443) 923-9569 or email: Comi@KennedyKrieger.org.