Childhood Absence EpilepsyNCT00041951
Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study
An observational study of Childhood Absence Epilepsy and Epilepsy, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
Trial summary
The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE). Read more about this study
- Who is it for?
- Ages 3 years and olderHealthy volunteers can take part
- Conditions the study is for
- Childhood Absence Epilepsy, Epilepsy, Seizures
- How many people
- 185 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 1998to Jul 2014
- 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 3 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios) and healthy individuals without epilepsy
Who may be able to join
- Clinical diagnosis of classical (typical) Childhood Absence Epilepsy
- Good seizure control
- Must be able to give saliva sample
Who cannot join
- History of non-febrile seizures prior to the onset of typical absence seizures
- other neuropsychiatric or developmental disorders.
Trial locations and contacts
1 site in 1 country.
United States1 site
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
About this study
Official title: Search for Genes Influencing Childhood Absence Epilepsy Study
The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).
Read the detailed description
A high familial predisposition for epilepsy in patients with childhood absence epilepsy (CAE), also called petit mal epilepsy, suggests underlying genetic causes contributing to the disease. Several areas harboring potential absence epilepsy genes have been identified in the genome.
This study will further narrow down those areas and identify gene(s) involved in the cause of CAE by taking several approaches: 1. Comparing patients with CAE to healthy individuals without epilepsy and 2. Investigating whole families with many members affected with epilepsy).
Participation in this study requires an interview regarding medical and family history and saliva (spit) collection from all available family members of families with many epilepsy cases. For those families without a history of epilepsy, parents and children are asked to provide a small amount of saliva only. Healthy volunteers without epilepsy or a family history of seizures are asked to fill out an anonymous questionnaire and provide a small amount of saliva as well.
Although the study is based at Mount Sinai School of Medicine in New York, all study materials can be sent to your home at no cost to participants or their insurance. For the collection of saliva, special containers are provided and they can be shipped back to Mount Sinai in the pre-paid envelope provided. Study materials can be completed at your convenience.
Results from this study may enable scientists to understand the cause of absence seizures and, perhaps, other types of seizures as well and with this laying the foundation for better diagnosis and treatment of epilepsy patients in the future.
- Conditions
- Childhood Absence Epilepsy, Epilepsy, Seizures
- Keywords
- Childhood Absence Epilepsy, CAE, Petit Mal, Epilepsy, Seizures, Genes, Inheritance, Genetics, Genetic Linkage
- Medical subject headings
- Epilepsy, Absence, Epilepsy, Seizures
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| CAE participants | Both parents and a child with CAE of families without other affected members (trios) or whole families with many members affected with epilepsy. | |
| Controls | Healthy individuals without epilepsy and no family history of epilepsy. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Saliva sample
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2002 (estimated)
- Study startDec 1998
- Primary completionJul 2014
- Study completionJul 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Childhood Absence EpilepsyStudies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 185 participants (actual)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Sponsor
- Investigators
- Martina Durner, M.D., Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00041951
- Sponsor's protocol ID
- GCO 07-1441
- Other IDs
- R01NS037466
- Status last verified
- May 2016
- First submitted
- 19 Jul 2002
- Last updated
- 1 Jun 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Jun 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for Genes Influencing Childhood Absence Epilepsy Study
- ClinicalTrials.gov ID
- NCT00041951
- Acronym / sponsor ID
- GCO 07-1441
- Conditions
- Childhood Absence Epilepsy, Epilepsy, Seizures
- Keywords
- Childhood Absence Epilepsy, CAE, Petit Mal, Epilepsy, Seizures, Genes, Inheritance, Genetics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 185 participants (actual)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Dec 1998
- Primary completion
- Jul 2014 (actual)
- Study completion
- Jul 2014 (actual)
- First posted
- 22 Jul 2002 (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 purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).
Detailed description
A high familial predisposition for epilepsy in patients with childhood absence epilepsy (CAE), also called petit mal epilepsy, suggests underlying genetic causes contributing to the disease. Several areas harboring potential absence epilepsy genes have been identified in the genome.
This study will further narrow down those areas and identify gene(s) involved in the cause of CAE by taking several approaches: 1. Comparing patients with CAE to healthy individuals without epilepsy and 2. Investigating whole families with many members affected with epilepsy).
Participation in this study requires an interview regarding medical and family history and saliva (spit) collection from all available family members of families with many epilepsy cases. For those families without a history of epilepsy, parents and children are asked to provide a small amount of saliva only. Healthy volunteers without epilepsy or a family history of seizures are asked to fill out an anonymous questionnaire and provide a small amount of saliva as well.
Although the study is based at Mount Sinai School of Medicine in New York, all study materials can be sent to your home at no cost to participants or their insurance. For the collection of saliva, special containers are provided and they can be shipped back to Mount Sinai in the pre-paid envelope provided. Study materials can be completed at your convenience.
Results from this study may enable scientists to understand the cause of absence seizures and, perhaps, other types of seizures as well and with this laying the foundation for better diagnosis and treatment of epilepsy patients in the future.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CAE participants | – | –Both parents and a child with CAE of families without other affected members (trios) or whole families with many members affected with epilepsy. |
| Controls | – | –Healthy individuals without epilepsy and no family history of epilepsy. |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios) and healthy individuals without epilepsy
Key inclusion criteria (3 listed)
- Clinical diagnosis of classical (typical) Childhood Absence Epilepsy
- Good seizure control
- Must be able to give saliva sample
Key exclusion criteria (2 listed)
- History of non-febrile seizures prior to the onset of typical absence seizures
- other neuropsychiatric or developmental disorders.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Saliva sample
Time frame: at baseline
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 1 Jun 2016.
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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.
Martina Durner, M.D. principal investigator
Icahn School of Medicine at Mount Sinai
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 Childhood Absence Epilepsy and Epilepsy, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
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 2 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 1 Jun 2016. 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 United States. 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?
Saliva sample (time frame: at baseline). 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 1 Jun 2016; AzTrials last refreshed its copy on 26 Oct 2026.