Neurocrine Biosciences, Inc. (Nasdaq: NBIX), a leading neuroscience-focused biopharmaceutical company, today reported demographic and clinical characteristics data from genetic screening-based studies of children with SCN8A-related epilepsies. Data was collected from more than 17,000 patients through Invitae Corporation’s Behind the Seizure® Program, of which Neurocrine Biosciences is a sponsor. The clinical characteristics of patients with pathogenic or likely pathogenic SCN8A variants were evaluated to assess the heterogeneity in the seizures and development of children with SCN8A-related epilepsies. These data (Poster #2.099: Demographic and Clinical Characteristics of Pediatric Patients with SCN8A-related Epilepsies: Results from a No-Charge Epilepsy Gene Panel) will be shared at the AES 2022 Annual Meeting in Nashville, Tennessee, December 2–6, 2022. (link)
“These analyses uncover the phenotypic spectrum of SCN8A variants and high seizure burden experienced by children with these previously undiagnosed, rare epilepsies,” said Eiry W. Roberts, M.D., Chief Medical Officer. “We’re proud to be a sponsor of Invitae’s Behind the Seizure® program, which provides no-charge genetic testing for children under eight years old who have had one or more unprovoked seizures, including those with SCN8A-related epilepsies. We are conducting a Phase 2 clinical study of NBI-921352, an investigational, selective sodium channel inhibitor as a potential adjunctive therapy in children and young adults with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE).”
The poster presents analyses of genetic testing data from 17,843 children under 8 years old and with ≥ 1 unprovoked seizure who participated in the Behind the Seizure® program. Data analysis demonstrated that 36 (0.2%) of the patients had an SCN8A variant that was classified as pathogenic (P) or likely pathogenic (LP). Of 24 unique P/LP SCN8A variants identified, 14 were classified as pathogenic and 10 were likely pathogenic. In patients with a P/LP SCN8A variant, mean (± SD) age at seizure onset was 1.4 (± 1.4) years and mean age at testing was 2.1 (± 2.4) years. The most common seizure type reported was generalized onset motor (50.0% of patients), followed by focal onset (30.6%) and generalized onset nonmotor (absence) seizures (13.9%). The most common developmental delays reported were language delays (30.6%), limited or absent speech (22.2%), and intellectual disability/motor development delays (16.7%). Over half (58.3%) of patients were reported to have experienced ≥ 1 convulsive seizure in the last month and 44.5% of patients had ≥ 1 prolonged (> 5 min) seizure over the past six months. At screening, 77.8% of patients were reported to be taking 1 to 3 antiseizure medications (ASMs) and almost one-fifth (19.4%) had previously discontinued 1 to 3 ASMs.
Neurocrine Biosciences is a sponsor of, and a participant in, the Behind the Seizures® Program Scientific Exhibit at AES 2022, where 7 companies will be presenting 30 scientific posters that highlight how the Behind the Seizures® Program is transforming genetic epilepsy diagnoses and enhancing care pathways using state-of-the-art research. The Behind the Seizures® Program Scientific Exhibit will be held on Sunday, December 4 in the Music City Center, (Room 207 C/D, 2nd floor) from 8:00am–11:00am CT.