Tuesday July 4, 2006 Tuesday July 4, 2006 7:30-9:00 Hall 1 Orphan Drug Symposium

Abstract

Abstract 1 M. Baulac ( 1 Service de Neurologie, Hopital Pitie-Salpetriere, Paris, France ) Although epilepsy is one of the commonest neurological disorders, certain epileptic syndromes or diseases are nonetheless fulfilling all the criteria, in terms of epidemiology and severity, for being qualified as rare diseases. These epileptic conditions indeed are distinct entities, affecting no more than 5 in 10,000 persons in Europe, carrying a risk of chronic impairment, severe debilitation, and mortality, and there is a lack of specific treatments with durable effects on the seizures and the neuropsychological disorders. Most of the epileptic encephalopathies can be qualified as rare diseases. They include Ohtahara syndrome / early myoclonic encephalopathy, migrating partial seizures in infancy, West syndrome, Dravet syndrome or severe myoclonic epilepsy in Infancy (1/30,000), Lennox-Gastaut syndrome (2/10,000), Landau-Kleffner syndrome, continuous spike-wave during sleep, etc… In these specific conditions, the intense ictal and interictal epileptic activity contributes to the progressive disturbance in brain function. These epileptic encephalopathies can themselves be caused by rare mutations or other rare diseases, for instance tuberous sclerosis in West syndrome. Orphan drugs, which are still in development, have been designated by the EMEA for the Dravet syndrome (stiripentol) and for the Lennox-Gastaut syndrome (rufinamide). In other situations, epilepsy is the predominant clinical expression of a disease of genetic, metabolic or inflammatory origin, which is responsible for progressive brain damage. Progressive myoclonic epilepsies (less than 1/20,000) for which brivaracetam was recently designated, and Rasmussen encephalopathy (approximately 1 case per big center per year) are good examples. It is very important for our patients and their families to ensure that these conditions are well acknowledged as rare diseases, and that they can benefit from the various governmental and EU incentives dedicated to specific research and Orphan drugs development.