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Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A
Gabriela Oesch1, Xiuhua Liang Bozarth1
1Division of Neurology, MB.7.420, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, United States.
Insights
Rufinamide effectively reduces seizures in children with intractable epilepsy, showing good long-term tolerability. This study highlights potential genetic links and a better response in girls, suggesting personalized treatment approaches for pediatric epilepsy.
Area of Science:
- Pediatric Neurology
- Epileptology
- Pharmacology
Background:
- Intractable epilepsy in children presents significant treatment challenges.
- Rufinamide is an antiepileptic drug with potential efficacy in pediatric populations.
- Understanding long-term outcomes and tolerability is crucial for clinical practice.
Purpose of the Study:
- To evaluate the long-term efficacy and tolerability of rufinamide in children with diverse epilepsy etiologies.
- To identify factors influencing rufinamide response, including genetic background and sex.
Main Methods:
- Retrospective chart review of 183 pediatric epilepsy patients treated with rufinamide (2009-2018).
- Efficacy assessed by seizure reduction categories (seizure-free, >50% reduction, any reduction, no reduction, worsening).
- Statistical analysis using Pearson's chi-square test to determine response predictors.
Main Results:
- Overall, 47.5% of patients experienced any seizure reduction, with 35% achieving >50% reduction and 3.3% becoming seizure-free.
- Mean treatment duration was approximately 44 months; adverse effects (e.g., fatigue) were reported in 10.9% of patients.
- Rufinamide showed significantly better seizure reduction in girls (p=0.038) and positive responses in patients with specific genetic mutations (e.g., SCN8A).
Conclusions:
- Rufinamide demonstrates long-term efficacy and good tolerability in pediatric patients with intractable epilepsy.
- Specific genetic profiles, such as SCN8A mutations, may predict a favorable response to rufinamide.
- Girls appear to exhibit a better treatment response compared to boys.
Objective:
To assess long-term efficacy and tolerability of rufinamide in children with epilepsy and a broad spectrum of underlying epileptic etiologies.
Methods:
Patients with epilepsy treated with rufinamide between 1/1/2009 and 1/1/2018 at Seattle Children's Hospital were included. Data were collected via retrospective chart review. Rufinamide efficacy was defined as seizure reduction from baseline including seizure free, >50% reduction, any reduction, no reduction, or worsening seizures. Pearson's chi-square test was used for statistical analysis.
Results:
183 patients (70 females and 113 males) with a broad spectrum of epileptic aetiologies (genetic/metabolic, hypoxic-ischemic, structural and others) were included. 45.9% of the patients had Lennox Gastaut syndrome. Rate of any seizure reduction was at 47.5%, seizure reduction >50% at 35%, and seizure free at 3.3%. Mean rufinamide dosage was 33.9 mg/kg/d (SD = 14.12). Mean duration of treatment was 44.48 months (SD 32.33). Suspected adverse effects occurred at 10.9%, most often as fatigue. Rufinamide achieved better seizure reduction in girls compared to boys [OR = 0.52, 95% CI (0.28, 0.97), p = 0.038]. Seizures were activated in a patient with a SCN1A mutation, fully controlled in a patient with a SCN8A mutation. Patients with certain genetic abnormalities such as DEPDC5, KCNQ2, SPATA5, and 47XYY achieved significant seizure reduction.
Conclusions:
Rufinamide is an effective and well-tolerated drug for long-term treatment in pediatric patients with intractable epilepsy. Certain genotypes such as SCN8A showed good response to rufinamide. Girls seemed to respond better than boys.
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