Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Sponsor

Markus Schuelke, M.D. (Other)

Overall Status

Completed

CT.gov ID

NCT01357707

Collaborator

Mainz University (Other), University of Ulm (Other), Ludwig-Maximilians - University of Munich (Other), University of Kiel (Other)

Enrollment

Location

Duration (Months)

0.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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 or Disease	Intervention/Treatment	Phase
Epilepsy Seizures, Infantile	Genetic: DNA preparation

Study Design

Study Type:

Observational

Actual Enrollment :

75 participants

Observational Model:

Family-Based

Time Perspective:

Prospective

Official Title:

Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Study Start Date :

Jul 1, 2010

Actual Primary Completion Date :

Dec 31, 2017

Actual Study Completion Date :

Dec 31, 2017

Arms and Interventions

Arm	Intervention/Treatment
West Syndrome (idiopathic) Patients with idiopathic infantile seizures	Genetic: DNA preparation Taking blood or saliva from the patient to prepare DNA therefrom

Arm

Intervention/Treatment

West Syndrome (idiopathic)

Patients with idiopathic infantile seizures

Genetic: DNA preparation

Taking blood or saliva from the patient to prepare DNA therefrom

Outcome Measures

Primary Outcome Measures

Discovery of a pathogenic mutation in an ion channel gene [4 weeks after taking of the DNA specimen]

Eligibility Criteria

Criteria

Ages Eligible for Study:

5 Years to 10 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Charité Universitätsmedizin	Berlin		Germany	13353

Sponsors and Collaborators

Markus Schuelke, M.D.
Mainz University
University of Ulm
Ludwig-Maximilians - University of Munich
University of Kiel

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Markus Schuelke, M.D., Prinicpal investigator, Charite University, Berlin, Germany

ClinicalTrials.gov Identifier:

NCT01357707

Other Study ID Numbers:

EA1_215_08
SFB 665 TP C4

First Posted:

May 23, 2011

Last Update Posted:

Feb 12, 2018

Last Verified:

Feb 1, 2018

Additional relevant MeSH terms:

Epilepsy

Seizures

Study Results

No Results Posted as of Feb 12, 2018