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Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study

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ClinicalTrials.gov Identifier: NCT00041951
Recruitment Status : Completed
First Posted : July 22, 2002
Last Update Posted : June 1, 2016
Sponsor:
Collaborator:
Information provided by (Responsible Party):

Study Description
Brief Summary:
The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).

Condition or disease
Childhood Absence Epilepsy Epilepsy Seizures

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

Study Type : Observational
Actual Enrollment : 185 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Search for Genes Influencing Childhood Absence Epilepsy Study
Study Start Date : December 1998
Primary Completion Date : July 2014
Study Completion Date : July 2014


Groups and Cohorts

Group/Cohort
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.


Outcome Measures

Primary Outcome Measures :
  1. Saliva sample [ Time Frame: at baseline ]

Biospecimen Retention:   Samples With DNA
saliva

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
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
Criteria

Patients and their families:

Inclusion Criteria:

  • Clinical diagnosis of classical (typical) Childhood Absence Epilepsy
  • Good seizure control
  • Must be able to give saliva sample

Exclusion Criteria:

  • History of non-febrile seizures prior to the onset of typical absence seizures
  • other neuropsychiatric or developmental disorders.
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00041951


Locations
United States, New York
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Martina Durner, M.D. Icahn School of Medicine at Mount Sinai
More Information

Responsible Party: Icahn School of Medicine at Mount Sinai
ClinicalTrials.gov Identifier: NCT00041951     History of Changes
Other Study ID Numbers: GCO 07-1441
R01NS037466 ( U.S. NIH Grant/Contract )
First Posted: July 22, 2002    Key Record Dates
Last Update Posted: June 1, 2016
Last Verified: May 2016

Keywords provided by Icahn School of Medicine at Mount Sinai:
Childhood Absence Epilepsy
CAE
Petit Mal
Epilepsy
Seizures
Genes
Inheritance
Genetics
Genetic Linkage

Additional relevant MeSH terms:
Epilepsy
Seizures
Epilepsy, Absence
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Epilepsy, Generalized