Is there a treatment for Sturge-Weber syndrome?
Thanks to a discovery made here at Kennedy Krieger Institute, we now know that a genetic mutation causes the hallmark port-wine birthmark in SWS. Treatments are available for many of the complications related to SWS. Now that the cause of SWS has been discovered, our ongoing efforts to develop targeted treatments will hopefully improve the outlook for our patients.
Recent clinical trials have been aimed at developing novel treatment strategies. A pilot clinical trial exploring the use of Cannabidiol for medically-refractory seizures in SWS was published, and suggests that this drug treatment may be safe and effective. Another clinical trial evaluating the use of oral sirolimus to address cognitive impairments related to SWS was published, which suggested that sirolimus may be an effective treatment as well.
Standard treatment for symptomatic SWS includes the following: laser treatment for the port-wine birthmark, eye drops or surgery for glaucoma, anticonvulsant medications for seizures, migraine preventatives or abortive medications, and, in a minority of patients, surgical resection of involved brain tissue.
Our most recent research efforts have been geared toward exploring the presymptomatic treatment of SWS. With many infants now being diagnosed prior to the onset of seizures, it is crucial that studies be done to determine the best way to prevent seizure onset to avoid neurologic injury and to optimize their health outcomes.