Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Epilepsy Clinical Trial

Official title:

Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01357707
• Other study ID #: EA1_215_08
• Secondary ID: SFB 665 TP C4
• Status: Completed
• Phase: N/A
• First received: May 19, 2011
• Last updated: February 8, 2018
• Start date: July 2010
• Est. completion date: December 31, 2017

Study information

• Verified date: February 2018
• Source: Charite University, Berlin, Germany
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 75
• Est. completion date: December 31, 2017
• Est. primary completion date: December 31, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years to 10 Years

Eligibility

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

Related Conditions & MeSH terms

• Epilepsy
• Seizures
• Seizures, Infantile

Intervention

Genetic:
• DNA preparation
Taking blood or saliva from the patient to prepare DNA therefrom

Locations

Country	Name	City	State
Germany	Charité Universitätsmedizin	Berlin

Sponsors (5)

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

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Discovery of a pathogenic mutation in an ion channel gene		4 weeks after taking of the DNA specimen