International forskning

Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy

Antonella Riva 1 2, Gianluca D'Onofrio 1 2, Angelica Pisati 2, Roberta Roberti 3, Elisabetta Amadori 1 2, Friedrich Bosch 4, Carolina Fischinger Moura de Souza 5, Ashley Thomas 6, Emilio Russo 3, Pasquale Striano 1 2, Allan Bayat 7 8

  • 1Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • 2Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini,” Genoa, Italy.
  • 3Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy.
  • 4Children’s Hospital, Fürth, Germany.
  • 5Medical Genetics Service, HCPA, Porto Alegre, Brazil.
  • 6University of Alabama, Birmingham, Alabama, USA.
  • 7Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • 8Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.


Background: Glycosylphosphatidylinositol-anchored protein deficiencies (GPI-ADs) are commonly associated with drug-resistant epilepsy (DRE). Cannabidiol (CBD) is approved for the adjunctive treatment of seizures in Dravet/Lennox-Gastaut Syndromes and Tuberous Sclerosis Complex. We report on the efficacy and safety of CBD for the treatment of DRE in patients with genetically proven GPI-AD. Patients and Methods: Patients received add-on treatment with purified GW-pharma CBD (Epidyolex®). Efficacy endpoints were the percentage of patients with ≥50% (responders) or >25<50% (partial responders) reduction in monthly seizures from baseline and at 12 (M12) months of follow-up. Safety was evaluated through adverse events (AEs) monitoring. Results: Six patients (5 males) were enrolled. The median age at seizures onset was 5 months and the syndromic diagnosis was early infantile developmental and epileptic encephalopathy in 4 patients and focal non-lesional epilepsy or GEFS+ in one patient each. Five out of six (83%) patients were responders at M12, while one was a partial responder. No severe AEs were reported. Mean prescribed CBD dose was 17.85 mg/kg/day and median treatment duration is currently 27 months. Conclusions: In summary, off-label treatment with CBD was effective and safe in patients with DRE due to GPI-ADs.