title: The European patient with Dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome.
abstract: Dravet syndrome is a rare form of epilepsy largely refractory to current antiepileptic medications. The only precedents of randomized placebo-controlled trials in Dravet syndrome are the two small trials that led to the approval of stiripentol. With the arrival of new clinical trials for Dravet syndrome, we sought to determine the characteristics of the patient population with Dravet syndrome in Europe today, which has possibly evolved subsequent to the approval of stiripentol and the ability to diagnose milder clinical cases via genetic testing. From May to June 2014, we conducted an online parent-reported survey to collect information about the demographics, disease-specific clinical characteristics, as well as current and past use of antiepileptic medications by European patients with Dravet syndrome. We present data from 274 patients with Dravet syndrome from 15 European countries. Most patients were between 4 and 8years of age, and 90% had known mutations in SCN1A. Their epilepsy was characterized by multiple seizure types, although only 45% had more than 4 tonic-clonic seizures per month on average. The most common drug combination was valproate, clobazam, and stiripentol, with 42% of the total population currently taking stiripentol. Over a third of patients with Dravet syndrome had taken sodium channel blockers in the past, and most had motor and behavioral comorbidities. Our study helps define the current typical European patient with Dravet syndrome. The results from this survey may have important implications for the design of future clinical trials that investigate new treatments for Dravet syndrome.
authors: Dravet Syndrome Foundation Spain, Madrid, Spain. Electronic address: luismi.aras@dravetfoundation.eu.
authors: Luis Miguel
authors: LM
authors: Aras
authors: Dravet Syndrome Foundation Spain, Madrid, Spain. Electronic address: julian.isla@dravetfoundation.eu.
authors: Julián
authors: J
authors: Isla
authors: Dravet Syndrome Foundation Spain, Madrid, Spain. Electronic address: ana.mingorance@dravetfoundation.eu.
authors: Ana
authors: A
authors: Mingorance-Le Meur
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use*; D001569:Benzodiazepines / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D000078306:Clobazam; D004148:Dioxolanes / Q000627:therapeutic use*; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D026941:Sodium Channel Blockers / Q000627:therapeutic use; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D004148:Dioxolanes; D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human; D026941:Sodium Channel Blockers; D001569:Benzodiazepines; D000078306:Clobazam; D014635:Valproic Acid; C021092:stiripentol
keywords: Antiepileptic drug; Childhood epilepsy; Clinical trials; Dravet syndrome; Orphan drug; Stiripentol