Contribution of Genetics, Non-invasive Neurophysiological Methods, Neuroimaging and Neuropsychology in Identifying the Cause and the Epileptogenic Zone in Focal Cryptogenic Epilepsies
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 5
- 试验地点
- 2
- 主要终点
- Identification of the epileptogenic zone.
研究概览
简要总结
Patients with cryptogenic focal epilepsy (unknown cause) represent about the 30% of the entire population of epilepsy patients. Among them, about 30% are drug-resistant. The implementation of of high-field magnetic resonance imaging resolution, the new Next Generation Sequencing techniques,and innovative non-invasive neurophysiological methods (Electroencephalogram-Functional magnetic resonance imaging and High Density-Electroencephalogram) could provide a superior identification of the epileptogenic zone and therefore an increased access to epilepsy surgery.
Despite this, patients with cryptogenic epilepsy require more frequently invasive methods of presurgical study and they have more unfavorable results than patients with lesions detectable on magnetic resonance imaging. Within this context, the study is aimed at integrating the neurophysiological, radiological, neuropsychological and genetic aspects of patients with focal cryptogenic epilepsy in order to evaluate their surgical eligibility,sparing invasive methods.
详细描述
The investigators foresee study duration of 36 months and the enrollment of about 20-25 patients, affected by cryptogenic epilepsy with onset during pediatric age (0-18 years), not only to identify the cause of epilepsy and the epileptogenic zone, but also to define in a non-invasive manner, the patient's possible eligibility for surgical therapy.
Innovative neurophysiological methods, such as combined Electroencephalogram-Functional magnetic resonance imaging recording and high resolution electroencephalogram, in addition to 7 Tesla brain magnetic resonance imaging (available through the Imago7 non-profit foundation), neuropsychological studies and genetic tests through Next generation sequencing allow an advanced pre-surgical study free from the risks and discomforts caused by invasive methods. The systematic use of these diagnostic approaches will implement the knowledge and skills of the teams and it will stimulate their use in the clinical daily practise, especially for pediatric patients.
In addition to that, the investigators would like to analyse descriptive indications relating to the diagnostic sensitivity of the combined Electroencephalogram-Functional magnetic resonance imaging recording, High Density-electroencephalogram and 7 Tesla magnetic resonance imaging in the identification of the epileptogenic zone, in patients with cryptogenic focal epilepsy.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Sequential
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 1 Month 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •focal epilepsy, onset during pediatric age (<18 y)
- •drug resistance
- •unknown cause
- •Brain magnetic resonance imaging negative
排除标准
- •epilepsy with good therapeutic control
- •focal symptomatic epilepsy
- •age limits onset (> 18 y)
研究组 & 干预措施
IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)
Step1: standard of care.
- acquisition and updating of Electroencephalogram polygraphic data of wakefulness and sleep and neuroradiological data
- complete neuropsychological assessment
- genetic tests through Next generation sequencing epilepsies panel, or exome
Step 2: experimental
- combined Electroencephalogram-Functional brain magnetic resonance imaging registration.
Step 3: experimental
In the event that neither the cause nor the epileptogenic area has been identified, we will evaluate the execution of further tests, such as:
- execution of High Density-Electroencephalogram recording at "IRCCS Medea di Conegliano" (TV, Italy) (approximately 3 patients / year) for a further electrophysiological definition;
- 7 Tesla brain magnetic resonance imaging performed at "IRCCS Stella Maris in Calambrone"(PI, Italy) (approximately 3 patients / year expected), to obtain greater spatial resolution and better neuroradiological definition.
干预措施: Standard of care (Diagnostic Test)
IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)
Step1: standard of care.
- acquisition and updating of Electroencephalogram polygraphic data of wakefulness and sleep and neuroradiological data
- complete neuropsychological assessment
- genetic tests through Next generation sequencing epilepsies panel, or exome
Step 2: experimental
- combined Electroencephalogram-Functional brain magnetic resonance imaging registration.
Step 3: experimental
In the event that neither the cause nor the epileptogenic area has been identified, we will evaluate the execution of further tests, such as:
- execution of High Density-Electroencephalogram recording at "IRCCS Medea di Conegliano" (TV, Italy) (approximately 3 patients / year) for a further electrophysiological definition;
- 7 Tesla brain magnetic resonance imaging performed at "IRCCS Stella Maris in Calambrone"(PI, Italy) (approximately 3 patients / year expected), to obtain greater spatial resolution and better neuroradiological definition.
干预措施: Functional magnetic resonance imaging-Electroencephalogram combined analysis (Diagnostic Test)
IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)
Step1: standard of care.
- acquisition and updating of Electroencephalogram polygraphic data of wakefulness and sleep and neuroradiological data
- complete neuropsychological assessment
- genetic tests through Next generation sequencing epilepsies panel, or exome
Step 2: experimental
- combined Electroencephalogram-Functional brain magnetic resonance imaging registration.
Step 3: experimental
In the event that neither the cause nor the epileptogenic area has been identified, we will evaluate the execution of further tests, such as:
- execution of High Density-Electroencephalogram recording at "IRCCS Medea di Conegliano" (TV, Italy) (approximately 3 patients / year) for a further electrophysiological definition;
- 7 Tesla brain magnetic resonance imaging performed at "IRCCS Stella Maris in Calambrone"(PI, Italy) (approximately 3 patients / year expected), to obtain greater spatial resolution and better neuroradiological definition.
干预措施: High density- electroencephalogram or 7 Tesla magnetic resonance imaging (Diagnostic Test)
结局指标
主要结局
Identification of the epileptogenic zone.
时间窗: through study completion, an average of 1 year
Identification of the epileptogenic zone. Identification of non-invasive methods (Electroencephalogram-Functional magnetic resonance imaging, High Density-Electroencephalogram and 7 Tesla brain magnetic resonance imaging) in order to provide the necessary and crucial data, allowing the patient access to the epilepsy surgery without recurring to invasive methods. The calculation of the sample size was carried out on the basis of the primary objective of non-invasive identification of the epileptogenic zone. 60 patients will be sufficient to estimate the proportion of subjects treated with an effect size of 0.5, a power of 90% and a first type error of 5%. (60 patients are obtained by including patients from Conegliano).
次要结局
- Diagnostic sensitivity comparison(through study completion, an average of 1 year)