A small, prospective, open-label trial found evidence of improved quality of life (QOL) and clinical outcomes among patients with treatment-resistant Sturge-Weber syndrome when they were treated with CBD.
Epidiolex (cannabidiol [CBD]) may hold promise for seizure control in treatment-resistant Sturge-Weber syndrome (SWS), according to a new study published in Pediatric Neurology. The prospective, pilot, open-label trial found evidence of improved quality-of-life (QOL) and clinical outcomes, but larger studies are warranted to confirm the drug’s effects in this population.
Seizure management is crucial in SWS, which is characterized by abnormal blood vessels in the brain and skin, and potentially the eyes. Seizure intensity is associated with cognitive outcomes, and seizures increase a patient’s risk of stroke or stroke-like events. CBD is a nonpsychotropic cannabinoid that is FDA approved for medically refractory seizures in Lennox-Gestaut syndrome, Dravet syndrome, and tuberous sclerosis complex.
CBD is also used clinically for patients living with SWS who have treatment-refractory seizures, and a previous study suggests that it may improve cognition, headaches, and other QOL measures in addition to reducing seizures in SWS. The new follow-up trial aimed to determine whether CBD could improve brain function, cognition, psychiatric function, and neurologic function in patients with SWS.
Ten participants were initially included in the study, all of whom had clinically diagnosed SWS with MRI-documented brain involvement. All patients had well-controlled seizures, defined as a seizure score of 1 or 2, as well as cognitive impairment, defined as a score of 2 or more in the SWS Neuroscore cognitive impairment domain. All participants were on antiseizure medication at enrollment, and 8 were on low-dose aspirin. Compliance with oral CBD treatment for the 6-month trial period was confirmed in all patients by testing at each visit.
Every 4 to 12 weeks, patient SWS neuroscores, port-wine birthmark scores, QOL, and adverse events (AEs) were recorded. Baseline neuropsychological, psychiatric, and motor assessments were conducted, with follow-up assessments completed at 6 months. One patient dropped out early due to moderate AEs.
No seizures were reported during the study, and all participants showed improvements in overall SWS Neuroscore from baseline to visit 5. In addition, migraine scores remained high overall from baseline until the end of the study. There were also significant improvements in the cognitive function domain specifically, in anxiety and emotional regulation from baseline to study completion, and in reported motor ability. Most neuropsychological measures remained stable from baseline to study completion.
Seven of 9 patients who completed the study reported QOL improvements from baseline to final follow-up, with the most commonly improvements seen in attention, concentration, flexibility, motor function, and mood.
“Importantly, these results suggest cannabidiol may improve neurologic and psychiatric issues, independent of seizure control; however, further study is needed to confirm these initial results,” the authors wrote.
The treatment was generally well tolerated, with 7 of 10 enrolled subjects experiencing mild or moderate AEs potentially related to the drug. Nausea, dizziness, headache, and decreased appetite were the most-reported AEs.
The study was limited by a small sample size and open-label design, as well as its transition from in-person to remote due to the COVID-19 pandemic. Further multicenter, double-blind, placebo-controlled studies are necessary to confirm the benefits of CBD in patients with SWS.
Overall, the results suggest CBD may improve QOL and clinical outcomes for patients with SWS, and therefore is worth exploring in future studies.
Smegal LF, Vedburthy P, Ryan M, et al. Cannabidiol treatment for neurologic, cognitive, and psychiatric symptoms in Sturge-Weber syndrome. Pediatr Neurol. Published online November 12, 2022. doi:10.1016/j.pediatrneurol.2022.10.014