EpilepsyNCT01357707
Clinical-genetic Investigations in Children With Early Infantile Epilepsies
An observational study of Epilepsy and Seizures, Infantile, run by Markus Schuelke, M.D. at 1 site in Germany.
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… Read more about this study
- Who is it for?
- Ages 5 to 10 years
- Conditions the study is for
- Epilepsy, Seizures, Infantile
- What is being tested?
- DNA preparation
- How many people
- 75 participants
- Where
- 1 siteGermany
- Study dates
- Jul 2010to 31 Dec 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 10 years
- All sexes
- No healthy volunteers
- Child
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.
Who may be able to join
- Hypsarrhythmia in the first year of life
- Infantile seizures in the first year of life
- Freedom of seizures at the age of 5 years
Who cannot join
- brain malformation
- metabolic disorder
- intracranial hemorrhage
- lissencephaly
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Epilepsy, Seizures, Infantile
- Being tested
- DNA preparation
- Medical subject headings
- Epilepsy, Seizures
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DNA preparationGenetic
Taking blood or saliva from the patient to prepare DNA therefrom
| Study group | Role | What they receive |
|---|---|---|
| West Syndrome (idiopathic) | Patients with idiopathic infantile seizures Receives: Genetic: DNA preparation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Discovery of a pathogenic mutation in an ion channel gene
Measured: 4 weeks after taking of the DNA specimen
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2011 (estimated)
- Study startJul 2010
- Primary completion31 Dec 2017
- Study completion31 Dec 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for EpilepsyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 75 participants (actual)
Sponsor and investigators
- Lead sponsor
- Markus Schuelke, M.D.
- Sponsor type
- University, hospital or other
- Collaborators
- Mainz University, University of Ulm, Ludwig-Maximilians - University of Munich, University of Kiel
- Responsible party
- Sponsor-investigator, Markus Schuelke, M.D., Charite University, Berlin, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01357707
- Sponsor's protocol ID
- EA1_215_08
- Other IDs
- SFB 665 TP C4
- Status last verified
- Feb 2018
- First submitted
- 19 May 2011
- Last updated
- 12 Feb 2018
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical-genetic Investigations in Children With Early Infantile Epilepsies
- ClinicalTrials.gov ID
- NCT01357707
- Acronym / sponsor ID
- EA1_215_08
- Conditions
- Epilepsy, Seizures, Infantile
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 75 participants (actual)
- Lead sponsor
- Markus Schuelke, M.D.University, hospital or other
- Collaborators
- Mainz University, University of Ulm, Ludwig-Maximilians - University of Munich, University of Kiel
- Study start
- Jul 2010
- Primary completion
- 31 Dec 2017 (actual)
- Study completion
- 31 Dec 2017 (actual)
- First posted
- 23 May 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| West Syndrome (idiopathic) | – | Genetic: DNA preparationPatients with idiopathic infantile seizures |
Who may qualify
- Ages
- 5 to 10 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- 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.
Key inclusion criteria (3 listed)
- Hypsarrhythmia in the first year of life
- Infantile seizures in the first year of life
- Freedom of seizures at the age of 5 years
Key exclusion criteria (4 listed)
- brain malformation
- metabolic disorder
- intracranial hemorrhage
- lissencephaly
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DNA preparationTaking blood or saliva from the patient to prepare DNA therefrom | Genetic | West Syndrome (idiopathic) |
Primary outcome
Discovery of a pathogenic mutation in an ion channel gene
Time frame: 4 weeks after taking of the DNA specimen
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Feb 2018.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Epilepsy and Seizures, Infantile, run by Markus Schuelke, M.D. at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Feb 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Discovery of a pathogenic mutation in an ion channel gene (time frame: 4 weeks after taking of the DNA specimen). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Feb 2018.