Abstract
ObjectivesThere are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability of stiripentol in adults with DS.Material and methodsWe conducted an observational clinical audit in the epilepsy service of the National Hospital for Neurology and Neurosurgery, London (UK).ResultsWe included 13 adult subjects with DS (eight females, five males). The responder (defined as more than 50% reduction in all seizure types) rate was 3/13 (23%) at 36 months. The following other outcomes were reported: seizure exacerbation (3/13, 23%), no change (3/13, 23%), less than 50% reduction in seizures (2/13, 15%), more than 50% reduction in generalized tonic‐clonic seizures but no other seizure types (1/13, 8%), undefined response (1/13, 8%). The retention rate was 62% after 1 year and 31% after 5 years. Adverse effects were reported in 7/13 (54%): the most frequent were anorexia, weight loss, unsteadiness and tiredness. Withdrawal due to adverse effects occurred in 3/13 (23%).ConclusionsCompared with previous studies on children with DS, our results show a lower responder rate and a similar tolerability profile. Stiripentol can be effective with a good tolerability profile. Our audit is small, but supports the use of stiripentol in adults with DS when first‐line treatments are ineffective or not tolerated, in keeping with published guidelines.
Highlights
Dravet syndrome (DS) is a severe genetic epileptic encephalopathy with onset in infancy, often associated with drug-resistant epilepsy, developmental slowing, cognitive impairment, occurrence of status epilepticus and elevated risk of early mortality.[1,2,3] In most cases, the cause is a mutation in the voltage-gated sodium channel type I alpha subunit gene, SCN1A.4 The main challenges include seizure control, prevention of status epilepticus and optimizing development of cognitive function, where possible
We show that stiripentol can be effective in adults with DS, with a reasonable tolerability profile
Not enough data on adult DS cases treated with stiripentol are available to make adequate comparisons with our findings
Summary
Dravet syndrome (DS) is a severe genetic epileptic encephalopathy with onset in infancy, often associated with drug-resistant epilepsy, developmental slowing, cognitive impairment, occurrence of status epilepticus and elevated risk of early mortality.[1,2,3] In most cases, the cause is a mutation in the voltage-gated sodium channel type I alpha subunit gene, SCN1A.4 The main challenges include seizure control, prevention of status epilepticus and optimizing development of cognitive function, where possible. The adult phenotype has been described in a number of previous studies.[2,5,6,7,8] Adjustment of treatment may be associated with improved seizure control, cognition and quality of life, even into later adult life.[2,6] Sodium channel blockers, for example, carbamazepine, oxcarbazepine and phenytoin, should usually be avoided as they can aggravate both seizures and interictal EEG.[9] Lamotrigine can cause seizure exacerbation,[10] has been reported to be beneficial in some cases.[11] Effective treatment strategies include valproic acid, clobazam, topiramate, levetiracetam, fenfluramine and bromides,[12,13,14] or dietary therapies (ketogenic or modified Atkins diet).[15] There are ongoing studies on the use of cannabidiol in children with DS.[16] Stiripentol was licensed under the European Medicine Agency Orphan Drug scheme in 2001 and is the only treatment for which a randomized, placebo-controlled trial has been performed in children with DS,[17] showing that significantly more children with DS on stiripentol adjunctive therapy were seizure-free, or experienced at
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