Clinical-genetic Investigations in Children With Early Infantile Epilepsies
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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 |
- 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 2013 |
| Estimated Primary Completion Date: | June 2013 (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 |
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.
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| 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. | |
More Information
No publications provided
| Responsible Party: | Prof. Dr. med. Markus Schuelke, 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: | May 20, 2011 |
| 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 May 23, 2013