Application of Novel Diagnostic and Therapeutical Methods in Epilepsy and Neurodevelopmental Abnormalities in Children. (EPIMARKER)

March 26, 2018 updated by: Sergiusz Jozwiak, Medical University of Warsaw

Application of Novel Diagnostic and Therapeutical Methods in Epilepsy and Neurodevelopmental Abnormalities in Children Based on the Clinical and Cellular Model of the Mammalian Target of Rapamycin - mTOR Dependent Epilepsy.

Epilepsy affects 1% of the world's population and 6 million people in Europe. The estimated total cost of €20 billion in Europe in 2014 makes epilepsy a significant socioeconomic burden. Despite great progress in the management of epilepsy and increasing numbers of antiepileptic drugs, 30-40% of epilepsy patients are refractory to all available medications. Moreover, in childhood epilepsy is a causative factor of psychiatric and behavioral comorbidities, including developmental delay and autism spectrum disorder. In spite of multiple trials no reliable biomarker of epilepsy development has been identified. There are no studies on biomarkers of drug-resistance or epilepsy recurrence after the drug withdrawal. EPIMARKER is a first project, carried out in humans, which is going to examine in prospective way clinical, electroencephalographic and molecular biomarkers to produce an integrative tool useful in everyday diagnosis and treatment of epilepsy in children to prevent the development of drug-resistant epilepsy and its behavioral comorbidities as mental retardation and autism. The set of molecular biomarkers will be determined by quantitative transcriptomic and proteomic studies and validated in reprogrammed cellular models.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

The clinical part of EPIMARKER is composed of 2 prospective studies (WP1 and WP2) of epilepsy progress in Tuberous Sclerosis Complex -TSC children, performed in 2 sites: Medical University of Warsaw -WUM and Children's Memoroal Health Institute - IPCZD, Poland.

WP1 and WP2 are designed to conduct the studies, but the resulting data and samples will be analyzed and used in Workpackage 3-12 (WP3-12).

CLINICAL STUDY in WP1 Inclusion criteria: male or female children with a definite diagnosis of TSC (Roach 1998), aged up to 4 years, diagnosis of epilepsy established on the basis of clinical seizures or epileptiform changes on EEG within 1-7 days prior to baseline , written informed consent of caregivers.

Study overview: Each subject will be followed for 12 month. Epilepsy will be tracked with serial video EEG (vEEG) recordings and clinical investigations performed every 3 months. Apart from medical history of the patients, data from seizure diary, neuroimaging studies, and neuropsychological examinations will be collected. Blood samples for biomarkers studies will be collected at study entry, at the onset of drug- resistant seizures or after 6 months, whichever is applicable, and at the end of follow-up in all patients participating in the project. The data obtained in children responding, to standard and with drug- resistant seizures will be compare.

Sample size: We plan to enroll 60 TSC patients into WP1 of Epimarker in 12 months. Based upon our preliminary results and extensive experience with TSC, we predict that about 50% of patients will develop drug- resistant seizures, while 50% will respond to standard treatment (Jozwiak 2011) Study endpoints: the primary clinical endpoint of this study is a collection of a set of clinical, molecular, and EEG source data in all subjects.

CLINICAL STUDY in WP2 Inclusion criteria: male or female children with a definite diagnosis of TSC (Roach criteria: Roach 1998) and epilepsy, aged up to 16 years, seizure free, in whom a decision to withdraw antiepileptic drugs was made, written informed consent of caregivers.

Study overview: Each subject will be followed for 12 months. Antiepileptic drugs will be withdrawn within 3 months in all subjects starting, at study entry. Epilepsy will be tracked by means of serial video EEG recordings and clinical investigations performed every 3 months. Apart from medical history of the patients, data from seizures diary, neuroimaging studies and neuropsychological examinations will be collected. Patients with recurrent seizures will receive antiepileptic treatment according to current standards. Blood samples for biomarkers study will be collected at study entry, at the end of drugs withdrawal, at the onset recurrent seizures and at the end of follow-up in all patient participating in the project. The data obtained in children seizure free at the end of follow-up and patients with recurrent seizures will be compare.

Sample size: We plan to enroll 60 TSC patients into WP2 of Epimarker in 12 months. Based upon our preliminary results and extensive experience with TSC, we predict that about 50% of patients will develop recurrent seizures, while 50% remain seizure free (unpublished data).

Study endpoints: the primary clinical endpoint of this study is a collection of a set of clinical, molecular, and EEG source data in all subjects.

Study Type

Interventional

Enrollment (Anticipated)

120

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 day to 16 years (CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

Inclusion Criteria WP1:

  • male or female children with a definite diagnosis of TSC (Roach 1998),
  • aged up to 4 years,
  • diagnosis of epilepsy established on the basis of clinical seizures or
  • epileptiform changes on EEG within 1-7 days prior to baseline ,
  • written informed consent of caregivers.

Inclusion Criteria WP2:

  • male or female children with a definite diagnosis of TSC (Roach criteria: Roach 1998) with epilepsy,
  • aged up to 16 years,
  • seizure free, in whom a decision to withdraw antiepileptic drugs was made,
  • written informed consent of caregivers.

Exclusion Criteria:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: PREVENTION
  • Allocation: NON_RANDOMIZED
  • Interventional Model: PARALLEL
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
OTHER: Workpackage1 WP1
Non interventional trial: male or female children with a definite diagnosis of TSC (Roach 1998), aged up to 4 years, diagnosis of epilepsy established on the basis of clinical seizures or epileptiform changes on EEG within 1-7 days prior to baseline. We plan to enroll 60 TSC patients into WP1 to Epimarker in 12 months.
Other: non interventional trial
other
Other Names:
  • other
OTHER: Workpackage2 WP2
Non interventional trial: male or female children with a definite diagnosis of TSC (Roach criteria: Roach 1998) and epilepsy, aged up to 16 years, seizure free, in whom a decision to withdraw antiepileptic drugs was made. We plan to enroll 60 TSC patients into WP2 to Epimarker in 12 months. The data obtained in children seizure free at the end of follow-up and patients with recurrent seizures will be compare.
Other: non interventional trial
other
Other Names:
  • other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
EEG and molecular data collection and integration into clinically applicable tool
Time Frame: 2020
The EEG algorithm will include the data from automatic statistical analysis of prospectively recorded EEG signal and comprehensive clinical investigations. To achieve this goal, a special automatic system to detect and count clinically important EEG features will be developed.
2020

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cellular model of developing TSC brain
Time Frame: 2020
EPIMARKER will develop a innovative human cellular model of epilepsy in developing brain, which can be used for epilepsy biomarkers analyses and for investigations on novel therapeutic strategies in epilepsy.
2020

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Medical University of Warsaw

Collaborators

Children's Memorial Health Institute, Poland

Investigators

  • Study Chair: Sergiusz Jóźwiak, professor, Medical University of Warsaw

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

April 1, 2017

Primary Completion (ANTICIPATED)

March 30, 2020

Study Completion (ANTICIPATED)

March 30, 2020

Study Registration Dates

First Submitted

March 26, 2018

First Submitted That Met QC Criteria

March 26, 2018

First Posted (ACTUAL)

April 3, 2018

Study Record Updates

Last Update Posted (ACTUAL)

April 3, 2018

Last Update Submitted That Met QC Criteria

March 26, 2018

Last Verified

March 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Strategmed3/306306/4/NCBR/2017

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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