Contribution of Genetics, Non-invasive Methods and Neuropsychology in Focal Cryptogenic Epilepsies

NCT05015868 | Completed

• 1 other identifier: 879
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

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.

Conditions

Epilepsies, Partial; Epilepsy Intractable

Outcome Measures

Primary Outcomes (1)

• Identification of the epileptogenic zone.

  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).

  through study completion, an average of 1 year

Secondary Outcomes (1)

• Diagnostic sensitivity comparison

  through study completion, an average of 1 year

Study Arms (1)

IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)

EXPERIMENTAL

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.

Diagnostic Test: Standard of care; Diagnostic Test: Functional magnetic resonance imaging-Electroencephalogram combined analysis; Diagnostic Test: High density- electroencephalogram or 7 Tesla magnetic resonance imaging

Interventions

Standard of care DIAGNOSTIC_TEST

Enrollment of patients afferent to our Center with cryptogenic drug-resistant epilepsy with onset in pediatric age, subject to informed consent; * acquisition and updating of Electroencephalogram polygraphic data of wakefulness and sleep and neuroradiological data (previous negative brain magnetic resonance imaging); * execution of a complete neuropsychological assessment for the classification of cognitive aspects and evaluation of executive functions; * execution of genetic tests through Next generation sequencing epilepsies panel or exome sequencing

IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)

Functional magnetic resonance imaging-Electroencephalogram combined analysis DIAGNOSTIC_TEST

A functional brain magnetic resonance imaging is executed analysing blood oxygenation level dependent signal. During the functional recording, a contemporary electroencephalogram is registered in order to analyse the space-time relationship between the epileptic discharges and the bold abnormalities.

IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)

High density- electroencephalogram or 7 Tesla magnetic resonance imaging DIAGNOSTIC_TEST

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.

IDENTIFICATION OF THE CAUSE OF THE EPILEPSY AND OF THE EPILEPTOGENIC ZONE (sequential approach)

Eligibility Criteria

• Age: 1 Month - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (1)

Scientific Institute IRCCS Eugenio Medea

Bosisio Parini, lecco, 23842, Italy

Location

MeSH Terms

Conditions

Epilepsies, Partial; Drug Resistant Epilepsy

Condition Hierarchy (Ancestors)

Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Study Officials

• Stefania Zambrano, MD

  Scientific Institute IRCCS Eugenio Medea

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2021
• First Posted: August 20, 2021
• Study Start: July 15, 2021
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: May 1, 2025

Record last verified: 2025-04

Locations

IT (1)