Use of Transcranial Magnetic Stimulation (TMS) as a Surrogate of Pathophysiology in Genetic Epilepsies
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 150
- 试验地点
- 2
- 主要终点
- TEP amplitude
研究概览
简要总结
Transcranial magnetic stimulation (TMS) uses electromagnetic induction as an efficient, painless, non-invasive method to generate a suprathreshold current at the level of the encephalon, and provide in vivo measurements of cortical excitability and reactivity at the level of the motor cortex (TMS-EMG) or the entire cortical mantle (TMS-EEG). This study proposes TMS measurements as a diagnostic tool in patients to understand mechanisms of epileptogenesis related to genetic mutations, and prognostic to guide and monitor precision treatments.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 3 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children aged >3 years and adults
- •Diagnosis of epilepsy with presumed or confirmed genetic etiology. Diagnosis of genetic epilepsy is made by next-generation sequencing (NGS) analysis
- •or Diagnosis of primary (non-hemicranial) headache, in the absence of alterations on neuroimaging, and no known genetic condition
- •Obtaining informed consent
排除标准
- •Age <3 years
- •Presence of contraindications to TMS: history of head or eye trauma with inclusion of metal fragments, cardiac pacemaker, arrhythmic heart disease, hearing implants, implantation of drug delivery devices, piercings or tattoos with metallic ink.
- •Pregnancy status
研究组 & 干预措施
Genetic epilepsy
Patients with epilepsies of genetic etiology
干预措施: transcranial magnetic stimulation (TMS) (Diagnostic Test)
Patients with primary headache
Patients with primary headache with non-migraine features
干预措施: transcranial magnetic stimulation (TMS) (Diagnostic Test)
结局指标
主要结局
TEP amplitude
时间窗: 24 months
Amplitude of each component of the TMS-evoked potential (mV)
ICF
时间窗: 24 months
Intracortical facilitation (ratio)
TEP latency
时间窗: 24 months
Latency of each component of the TMS-evoked potential (msec)
Resting motor threshold
时间窗: 24 months
Resting motor threshold (%MSO)
SICI
时间窗: 24 months
Short Interval intracortical inhibition (ratio)
LICI
时间窗: 24 months
Long Interval Intracortical inhibition (ratio)
次要结局
未报告次要终点
研究者
Simona Balestrini
Principal Investigator
Meyer Children's Hospital IRCCS