Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2012 by Mount Sinai School of Medicine
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Mount Sinai School of Medicine
ClinicalTrials.gov Identifier:
NCT00041951
First received: July 19, 2002
Last updated: August 9, 2012
Last verified: August 2012

July 19, 2002
August 9, 2012
December 1998
December 2013   (final data collection date for primary outcome measure)
Saliva sample [ Time Frame: at baseline ] [ Designated as safety issue: No ]
Not Provided
Complete list of historical versions of study NCT00041951 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study
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).

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.

Observational
Observational Model: Case Control
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

saliva

Non-Probability Sample

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

  • Childhood Absence Epilepsy
  • Epilepsy
  • Seizures
Not Provided
  • 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.
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1500
December 2013
December 2013   (final data collection date for primary outcome measure)

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.
Both
3 Years and older
Yes
Contact: Jill Weinfeld 212-659-5629 Jillian.Weinfeld@mssm.edu
United States
 
NCT00041951
GCO 07-1441, R01NS037466
No
Mount Sinai School of Medicine
Mount Sinai School of Medicine
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Martina Durner, M.D. Mount Sinai School of Medicine, martina.durner@mssm.edu
Mount Sinai School of Medicine
August 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP