Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes
试验速览
- 阶段
- 4 期
- 状态
- 招募中
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Seizure frequency.
研究概览
简要总结
This study is a pilot non-controlled clinical trial with adjunctive fenfluramine for the treatment of five different types of developmental and epileptic encephalopathies (DEEs) focused on epileptic and "non-epileptic outcomes": SYNGAP1 and STXBP1 encephalopathies, inv-dup(15) encephalopathy, multifocal or bilateral malformations of cortical development, and continuous spikes and waves during sleep. The main goal is to assess changes in seizure frequency comparing before and after treatment with fenfluramine in five specific types of developmental and epileptic encephalopathies (DEEs). Secondary objectives of this study are the analysis of changes in seizure intensity and duration, and "non-epileptic outcomes" such as variations in cognitive activity, level of alertness, impulsivity/self-control, gait stability and other alterations that might be detected during the interview and physical examination.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 35 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
研究组 & 干预措施
- Group 1A.
Patients with genetic testing showing a pathogenic or likely pathogenic variant in main synaptopathy genes (SYNGAP1 and STXBP1)
干预措施: Fenfluramine (Drug)
Group 1B.
Patients with genetic testing showing a pathogenic or likely pathogenic inverted duplication of chromosome 15 [inv-dup (15)].
干预措施: Fenfluramine (Drug)
Group 1C.
Patients with neuroimaging showing multifocal or bilateral malformations of cortical development.
干预措施: Fenfluramine (Drug)
Group 2.
Electroclinical diagnosis of Continuous Spikes and Waves during Sleep (CSWS) syndrome, with baseline video-EEG monitoring showing epileptiform activity occupying at least 50% of slow sleep tracing, after failing at least 3 antiseizure medications
干预措施: Fenfluramine (Drug)
结局指标
主要结局
Seizure frequency.
时间窗: 12 months.
Seizure diary.
次要结局
- Behaviour.(12 months.)
- Gross motor function.(12 months.)
- Seizure severity.(12 months.)
- Sleep habits.(12 months.)
- Global impression of change.(12 months.)
- Quality of life and family impact.(12 months.)
- Epileptiform activity(12 months.)
研究者
Antonio Gil-Nagel
Epilepsy Program Director
Hospital Ruber Internacional