Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia (Member of ERN EpiCARE), Dianalund, Denmark.
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
Epilepsia Open. 2024 Oct;9(5):1891-1900. doi: 10.1002/epi4.13029. Epub 2024 Aug 14.
Dravet syndrome is a developmental and epileptic encephalopathy characterized by early onset epilepsy with multiple seizure types often intractable to treatment. Randomized clinical trials have demonstrated how treatment with fenfluramine significantly reduces seizure frequency in patients with Dravet syndrome. The study aims to (1) describe the efficacy and tolerability of fenfluramine in a Danish cohort of patients with Dravet syndrome; and (2) evaluate whether treatment with fenfluramine reduces epilepsy-related hospital contacts administrated by pediatricians or epilepsy-trained nurses.
A retrospective registry-based cohort study at the Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark, enrolled 30 pediatric patients with Dravet syndrome treated with fenfluramine between 2017 and 2023.
Thirty patients with Dravet syndrome (aged 3-21 years, 12 females) with a verified pathogenic SCN1A variant were included. They were treated with fenfluramine at a mean duration of 29 months with a mean maintenance dose of 0.5 mg/kg/day. The number of patient-years on treatment was 75 years. At last follow-up, 6 patients had discontinued treatment due to lack of efficacy or adverse effects. In the remaining 24 patients, generalized tonic-clonic seizures were reduced by ≥30% in 83%, by ≥50% in 67%, and by 100% in 25%. Additionally, 71% of the patients were reduced in concomitant anti-seizure medication, and 75% experienced a reduction (mean reduction at 52%, range 11%-94%) in epilepsy-related hospital contacts from baseline to the end of the treatment period.
Treatment with fenfluramine effectively reduced seizure frequency and concomitant antiseizure medication in patients with Dravet syndrome. Furthermore, a decrease in epilepsy-related contacts by 80% was observed over 6 years of treatment, which may indicate cost-effective benefits.
Patients with Dravet syndrome suffer from severe epileptic seizures that are difficult to treat with medication. Earlier, treatment with fenfluramine (an anti-seizure medication) has been documented to decrease the total number of seizures in patients with Dravet syndrome. This publication summarizes the experiences with fenfluramine in children with Dravet syndrome at the Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark. Our publication also illustrates that treatment with fenfluramine may reduce the patients' number of yearly contacts with doctors and nurses specialized in epilepsy treatment, which may indicate cost-effectiveness.
德拉维特综合征是一种发育性和癫痫性脑病，其特征为早期发作的癫痫，多种发作类型，通常难以治疗。随机临床试验已经证明，使用芬氟拉明治疗可显著降低德拉维特综合征患者的癫痫发作频率。本研究旨在：(1)描述丹麦一组德拉维特综合征患者使用芬氟拉明的疗效和耐受性；(2)评估芬氟拉明治疗是否可减少儿科医生或癫痫专科护士管理的与癫痫相关的住院次数。
在丹麦菲拉德尔菲亚迪阿纳伦德癫痫中心进行了一项基于回顾性登记的队列研究，共纳入 2017 年至 2023 年期间接受芬氟拉明治疗的 30 例德拉维特综合征患儿。
共纳入 30 例德拉维特综合征患儿（年龄 3-21 岁，12 例女性），均携带经证实的致病性 SCN1A 变异。他们平均接受芬氟拉明治疗 29 个月，平均维持剂量为 0.5mg/kg/天。治疗的患者年数为 75 年。末次随访时，6 例因疗效不佳或不良反应而停药。在其余 24 例患者中，全身性强直阵挛发作减少≥30%的占 83%，减少≥50%的占 67%，减少 100%的占 25%。此外，71%的患者抗癫痫药物减少，75%的患者癫痫相关住院次数减少（平均减少 52%，范围 11%-94%），从基线到治疗结束。
芬氟拉明治疗可有效降低德拉维特综合征患者的癫痫发作频率和抗癫痫药物的使用。此外，在 6 年的治疗期间，观察到与癫痫相关的接触减少了 80%，这可能表明具有成本效益。
