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Pathophysiology Based Therapy of Early Onset Epileptic Encephalopathies (EE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02968966
Recruitment Status : Withdrawn (no patients recruited)
First Posted : November 21, 2016
Last Update Posted : February 7, 2020
Information provided by (Responsible Party):
University Hospital Tuebingen

Brief Summary:
Genetic epileptic encephalopathies (EEs) are a group of very rare and severe, pharmaco-resistant epilepsy forms characterized by an early onset, e.g. first years of life, and an often severe developmental delay. Genetic defects were found in different ion channels such as potassium or sodium channels explaining well the pathological neuronal hyperexcitability leading to seizures. Further mutations were also found in proteins relevant for cell structure, DNA/RNA processing or the synaptic vesicular metabolism. Specific and individualized therapies have not been established neither in the clinical routine nor in controlled studies. The goal of this monocentric non-blinded non-placebo controlled phase IIb study is the evaluation of the effectivity of anticonvulsive drugs specifically working on the ion channels defective in some subtypes of EEs in order to establish a standard and individualized therapy for these rare diseases based on the specific genetic defect.

Condition or disease Intervention/treatment Phase
Seizure, Epileptic Other: Therapy regime Phase 2

Detailed Description:
During the study, the sodium channel blockers phenytoin and lacosamide and the potassium channel blocker kinidinsulfate will be given under standardized conditions to patients with an early onset and pharmaco-resistant genetic epilepsy with and without mutations in the potassium channels KCNT1 and KCNQ2 and the sodium channel gene SCN2A. The primary endpoint will be a significant seizure reduction under trial medication compared to baseline. Secondary endpoints will be the improvement of electroencephalographic characteristics of the respective EEs.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 0 participants
Intervention Model: Single Group Assignment
Intervention Model Description: Treatment A - if no positive response: Treatment B
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Pathophysiologie Basierte Therapie Von früh Beginnenden Epileptischen Enzephalopathien
Actual Study Start Date : December 1, 2018
Estimated Primary Completion Date : May 2020
Estimated Study Completion Date : August 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Epilepsy Seizures

Arm Intervention/treatment
Experimental: Therapy regime
Two medical drugs will be administered in a predefined order (1. Phenhydan® (Phenytoin), 2. Lacosamide (Vimpat®) to investigate whether this enables an effective reduction of seizures in early onset epileptic encephalopathies..
Other: Therapy regime
Patient will receive Phenytoin, if no success is obtained, Vimpat is given. In case of success after one of the treatments, the endpoint is reached. Success is defined as reduction of seizures to 50% compared to baseline.
Other Name: two medical products given in a predefined order

Primary Outcome Measures :
  1. Reduction of seizures [ Time Frame: one week ]
    Reduction of epileptic seizures within one treatment phase to 50% compared to baseline

Secondary Outcome Measures :
  1. Reduction of seizures stratified for genetic background [ Time Frame: one week ]
    Reduction of epileptic seizures within one treatment phase to 50% compared to baseline stratified for three gene mutations

  2. Reduction of epileptic activities or suppression phases [ Time Frame: one week ]
    Reduction of epileptic activities or suppression phases in EEG

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 12 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • highly active epilepsy (≥ 1 seizure per day)
  • epilepsy with onset 0-3 months of age
  • pharmaco-resistant epilepsy (2 or more standard anticonvulsive medications tried before)
  • recently max. two stable anticonvulsive drugs for minimum 4 days before study start
  • patients under continuous monitoring control
  • patients younger than 1 year of age

Exclusion Criteria:

  • high grade cardial rhythm disorders
  • severe liver, renal and electrolyte blood parameter changes
  • metabolic or lesional origin of epilepsy (metabolic screening results and cranial MRI available)
  • parallel participation in other studies (must be finished two month before study start)
  • missing informed consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02968966

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Universtiy Hospital
Tübingen, Germany, 72076
Sponsors and Collaborators
University Hospital Tuebingen
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Principal Investigator: Markus Wolff, Dr. University Children's Hospital Tübingen

Study Data/Documents: Synopsis  This link exits the site

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Responsible Party: University Hospital Tuebingen Identifier: NCT02968966    
Other Study ID Numbers: AKF 357-0-0
First Posted: November 21, 2016    Key Record Dates
Last Update Posted: February 7, 2020
Last Verified: February 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Brain Diseases
Central Nervous System Diseases
Voltage-Gated Sodium Channel Blockers
Sodium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action
Cytochrome P-450 CYP1A2 Inducers
Cytochrome P-450 Enzyme Inducers