NCT02968966

Pathophysiology Based Therapy of Early Onset Epileptic Encephalopathies

Pathophysiologie Basierte Therapie Von früh Beginnenden Epileptischen Enzephalopathien

• Status: Withdrawn
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 0 (actual)
• Sponsor: University Hospital Tuebingen · Academic / Other
• Sex: All
• Age: 12 Months
• Healthy volunteers: Not accepted

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.

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.

Conditions

• Seizure, Epileptic

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2018-12-01
• Primary completion: 2020-05-01
• Completion: 2020-08-01
• First posted: 2016-11-21
• Last updated: 2020-02-07

Locations

1 site across 1 country: Germany