Clinical-genetic Investigations in Children With Early Infantile Epilepsies
2 other identifiers
observational
75
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Jul 2010
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 1, 2010
CompletedFirst Submitted
Initial submission to the registry
May 19, 2011
CompletedFirst Posted
Study publicly available on registry
May 23, 2011
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2017
CompletedStudy Completion
Last participant's last visit for all outcomes
December 31, 2017
CompletedFebruary 12, 2018
February 1, 2018
7.5 years
May 19, 2011
February 8, 2018
Conditions
Outcome Measures
Primary Outcomes (1)
Discovery of a pathogenic mutation in an ion channel gene
4 weeks after taking of the DNA specimen
Study Arms (1)
West Syndrome (idiopathic)
Patients with idiopathic infantile seizures
Interventions
Taking blood or saliva from the patient to prepare DNA therefrom
Eligibility Criteria
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.
You may qualify if:
- Hypsarrhythmia in the first year of life
- Infantile seizures in the first year of life
- Freedom of seizures at the age of 5 years
You may not qualify if:
- brain malformation
- metabolic disorder
- intracranial hemorrhage
- lissencephaly
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Markus Schuelke, M.D.lead
- Mainz Universitycollaborator
- University of Ulmcollaborator
- Ludwig-Maximilians - University of Munichcollaborator
- University of Kielcollaborator
Study Sites (1)
Charité Universitätsmedizin
Berlin, 13353, Germany
Biospecimen
DNA isolated from blood cells or from saliva
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- Prinicpal investigator
Study Record Dates
First Submitted
May 19, 2011
First Posted
May 23, 2011
Study Start
July 1, 2010
Primary Completion
December 31, 2017
Study Completion
December 31, 2017
Last Updated
February 12, 2018
Record last verified: 2018-02