Clinical trial NCT05015868: Contribution of Genetics, Non-invasive Methods and Neuropsychology in Focal Cryptogenic Epilepsies
Official title: Contribution of Genetics, Non-invasive Neurophysiological Methods, Neuroimaging and Neuropsychology in Identifying the Cause and the Epileptogenic Zone in Focal Cryptogenic Epilepsies
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Epilepsies, Partial
Epilepsy Intractable
Lead sponsor: IRCCS Eugenio Medea
Sponsor class: OTHER
First posted: 2021-08-20
Enrollment: 5
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SEQUENTIAL
Primary purpose: DIAGNOSTIC

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* focal epilepsy, onset during pediatric age (\<18 y)
* drug resistance
* unknown cause
* Brain magnetic resonance imaging negative

Exclusion Criteria:

* epilepsy with good therapeutic control
* focal symptomatic epilepsy
* age limits onset (\> 18 y)

Primary outcomes:
measure: Identification of the epileptogenic zone.
timeFrame: through study completion, an average of 1 year
Secondary outcomes:
measure: Diagnostic sensitivity comparison
timeFrame: through study completion, an average of 1 year
Other outcomes:
Locations:
city: Bosisio Parini
country: Italy
facility: Scientific Institute IRCCS Eugenio Medea
state: Lecco
Study officials:
affiliation: Scientific Institute IRCCS Eugenio Medea
name: Stefania Zambrano, MD
role: PRINCIPAL_INVESTIGATOR
References: