First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome)

Introduction: We evaluated the long-term efficacy and tolerability of the orphan drug rufinamide (RUF) in children with pharmacoresistant myoclonic-astatic epilepsy (MAE, Doose syndrome). Methods: This was a retrospective European multicenter study on eight patients who had started an intention-to-treat trial of RUF between July 2007 and June 2010. Clinical information was collected via questionnaire. Responder rate was defined as reduction of seizure frequency >= 50% in comparison to four weeks before starting RUF. Maximum follow-up was eighteen months. Results: Responder rates were 7/8 patients after 3 months, 6/8 patients after 6 months and 5/8 patients after 12 months. RUF seemed particularly effective in the prevention of myoclonic-astatic seizures (comparable with drop attacks in Lennox-Gastaut-Syndrome, for which RUF is particularly effective). Some loss of efficacy was noticed in the longterm observation. Side-effects occurred in two patients. Seizure aggravation was not observed. Conclusion: RUF seems to be a promising therapeutic option in children with MAE. Further studies are warranted to confirm these first observations. (c) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.