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OpenTrials
Completed

NCT Number: NCT01357707

Clinical-genetic Investigations in Children With Early Infantile Epilepsies

The project strives to discover novel genetic defects that cause monogenic epilepsy or that genetically modify a preexisting epileptic phenotype. Our main aim is to find genetic causes for the idiopathic West Syndrome (infantile seizures) that are not caused by known cerebral malformation, lissencephaly or metabolic disorders and which have a comparatively benign prognosis.

The investigators hypothesize that mutations in genes coding for ion channels or genes that modify the action of ion channels might be causative.

For that the investigators will perform a sequence analysis of the coding exons of a large set of genes in all recruited patients and verify found mutations in their parents.

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Key information

Conditions

Epilepsy Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Seizures Seizures, Infantile Signs and Symptoms

Age range

5 year–10 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Charité Universitätsmedizin

Berlin, 13353, Germany

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Hypsarrhythmia in the first year of life
  • Infantile seizures in the first year of life
  • Freedom of seizures at the age of 5 years

Exclusion criteria

  • brain malformation
  • metabolic disorder
  • intracranial hemorrhage
  • lissencephaly

Treatment and study plan

DNA preparation

Genetic

Taking blood or saliva from the patient to prepare DNA therefrom

Primary outcomes

  1. Discovery of a pathogenic mutation in an ion channel gene

    Time frame: 4 weeks after taking of the DNA specimen

Sponsors and collaborators

Lead sponsor

Markus Schuelke, M.D.

Other

Collaborators

  • Ludwig-Maximilians - University of Munich
  • Mainz University
  • University of Kiel
  • University of Ulm

Registry information

Important dates

Study start
2010
Primary completion
2017
Study completion
2017
First posted
May 23, 2011
Registry last updated
Feb 12, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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