Condition: Epilepsy · Dravet Syndrome · Drug Resistant Epilepsy · Sponsor: Hospices Civils de Lyon
Dravet Syndrome (DS) is a severe neurodevelopmental disease, which is predominantly caused by mutations of SCN1A, the gene coding for Nav1.1 voltage-gated sodium channels. DS is characterized by infancy onset, severe cognitive deficit and drug-resistant seizures, including several generalized convulsive seizures per day and frequent status epilepticus, often triggered by fever or hyperthermia. Among the causes of premature deaths in patients with epilepsy, sudden and unexpected death in epilepsy (SUDEP) represents a major cause. SUDEP is a non-traumatic and non-drowning death in patients with epilepsy, unrelated to a documented status epilepticus. The risk of SUDEP is particularly high in patients suffering from DS, reaching about 9/1000-person-year, as compared to about 1/1000-person-year in people with epilepsy including all disease types. The main clinical risk factor of SUDEP is the frequency of convulsive seizures. Beyond improving seizure control, which we showed to mitigate the SUDEP risk, more specific preventive treatment strategies are still lacking. Experimental and clinical data suggest that most SUDEP cases result from postictal brainstem dysfunction, including central respiratory arrest There is a body of evidence suggesting involvement of serotonin (5HT) dysfunction both in the pathogenesis of epilepsy in DS and in seizure-related respiratory dysfunction. Serotonin indeed plays a key role in the regulation of respiration. Population firing of serotoninergic ne…
This description comes directly from the study's public registry record.
Sylvain Rheims, Pr · 0472357106 · Sylvain.rheims@chu-lyon.fr
Camille Giraudon, Dr · 04 26 73 94 38 · Camille.giraudon@chu-lyon.fr
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| Hôpital Neurologique Pierre Wertheimer | Bron, Rhone, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT07013331