Neuropediatrics 2011; 42 - P002
DOI: 10.1055/s-0031-1273974

First observations of treatment with rufinamide in children with myoclonic-astatic epilepsy

C von Stülpnagel 1, G Coppola 2, A Müller 1, G Kluger 1
  • 1Klinik für Neuropädiatrie und Neurologische Rehabilitation, Epilepsie-Zentrum für Kinder und Jugendliche, Schön Klinik Vogtareuth, Vogtareuth, Germany
  • 2Clinic of Child Neuropsychiatry, University of Naples, Naples, Italy

Aims: We report about the add-on therapy of the orphan-drug rufinamide (RUF), which is licensed for Lennox-Gastaut-Syndrome in seven patients with difficult-to-treat Doose-Syndrome (=myoclonic-astatic epilepsy, MAE).

Methods: Seven Patients (5 male; age 3.10 to 20 years, mean 7.8 y.) with difficult-to-treat MAE were included in a retrospective evaluation of treatment with RUF. Average anticonvulsive pre-treatment: eight anticonvulsive drugs (AED) (range 2–14 AED; mean 7.7), together with mild to severe mental retardation (four mild; two moderate and one severe). RUF was gradually introduced as add-on therapy starting with 5mg/kg/d. Responder (RS): reduction of seizure frequency ≥50% in comparison to four weeks before starting the therapy with RUF and a lasting effect for at least three months.

Results: Responders: six of seven patients (85.7%), all with 75% reduction of seizure frequency. The best effect of RUF was noticed for drop-attacks, generalized tonic-clonic seizures and tonic seizures. After RUF treatment for six months we had four responders out of five patients (80%); after 12 months four patients of four still showed a 75% reduction of seizure frequency and after 18 months one patient out of three (33%) still taking RUF reported a 80% reduction of his main seizure types drop-attacks and myoclonic seizures. The most effective dose of RUF was 44.5mg/kg/d (range of dosage 32mg/kg/d –72mg/kg/d). Side-effects (SE) occurred in 40% and were mainly decreased appetite and sleepiness which got less after the patient had become accustomed to the medication; no aggravation of seizures was seen. Three of the six responders (50%) had a co-medication with valproic-acid.

Conclusion: Observation of a high efficacy with RUF in a small number of patients with refractory MAE with some loss of efficacy in the long-term treatment. A suitable anticonvulsive combination might be rufinamide together with valproic acid as 50% of our responders had this combination. Further multicenter studies are warranted to confirm our first observations.