Clinical-genetic Investigations in Children With Early Infantile Epilepsies

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by Charite University, Berlin, Germany
Sponsor:
Collaborators:
Mainz University
University of Ulm
Ludwig-Maximilians - University of Munich
University of Kiel
Information provided by (Responsible Party):
Markus Schuelke, M.D., Charite University, Berlin, Germany
ClinicalTrials.gov Identifier:
NCT01357707
First received: May 19, 2011
Last updated: July 5, 2013
Last verified: July 2013
  Purpose

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.


Condition Intervention
Epilepsy
Seizures, Infantile
Genetic: DNA preparation

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Resource links provided by NLM:


Further study details as provided by Charite University, Berlin, Germany:

Primary Outcome Measures:
  • Discovery of a pathogenic mutation in an ion channel gene [ Time Frame: 4 weeks after taking of the DNA specimen ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

DNA isolated from blood cells or from saliva


Estimated Enrollment: 50
Study Start Date: July 2010
Estimated Study Completion Date: June 2015
Estimated Primary Completion Date: June 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
West Syndrome (idiopathic)
Patients with idiopathic infantile seizures
Genetic: DNA preparation
Taking blood or saliva from the patient to prepare DNA therefrom

  Eligibility

Ages Eligible for Study:   5 Years to 10 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients with infantile seizures without brain malformations, metabolic disorders of lissencephaly who had a good outcome and are seizure free (with or without AEDs) after the age of 5 years.

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01357707

Locations
Germany
Charité Universitätsmedizin Recruiting
Berlin, Germany, 13353
Contact: Markus Schuelke, M.D.    +49 30 4505 66468    markus.schuelke@charite.de   
Contact: Ellen Knierim, M.D.    +49 30 450 539015    ellen.knierim@charite.de   
Principal Investigator: Markus Schuelke, M.D.         
Sub-Investigator: Ellen Knierim, M.D.         
Sponsors and Collaborators
Markus Schuelke, M.D.
Mainz University
University of Ulm
Ludwig-Maximilians - University of Munich
University of Kiel
  More Information

No publications provided

Responsible Party: Markus Schuelke, M.D., Prinicpal investigator, Charite University, Berlin, Germany
ClinicalTrials.gov Identifier: NCT01357707     History of Changes
Other Study ID Numbers: EA1_215_08, SFB 665 TP C4
Study First Received: May 19, 2011
Last Updated: July 5, 2013
Health Authority: Germany: Ministry of Health

Additional relevant MeSH terms:
Epilepsy
Seizures
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms

ClinicalTrials.gov processed this record on August 26, 2014