Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2012 by Mount Sinai School of Medicine.
Recruitment status was  Recruiting
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
  Purpose

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


Condition
Childhood Absence Epilepsy
Epilepsy
Seizures

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Search for Genes Influencing Childhood Absence Epilepsy Study

Resource links provided by NLM:


Further study details as provided by Mount Sinai School of Medicine:

Primary Outcome Measures:
  • Saliva sample [ Time Frame: at baseline ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

saliva


Estimated Enrollment: 1500
Study Start Date: December 1998
Estimated Study Completion Date: December 2013
Estimated Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

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.

  Eligibility

Ages Eligible for Study:   3 Years and older
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00041951

Contacts
Contact: Jill Weinfeld 212-659-5629 Jillian.Weinfeld@mssm.edu

Locations
United States, New York
Mount Sinai School of Medicine, Department of Psychiatry, Aron Hall, Suite 1B Right, 50 E. 98th Street Recruiting
New York, New York, United States, 10029
Contact: Jillian Weinfeld    212-659-5629    Jillian.Weinfeld@mssm.edu   
Principal Investigator: Martina Durner, M.D.         
Sponsors and Collaborators
Mount Sinai School of Medicine
Investigators
Principal Investigator: Martina Durner, M.D. Mount Sinai School of Medicine, martina.durner@mssm.edu
  More Information

Additional Information:
No publications provided

Responsible Party: Mount Sinai School of Medicine
ClinicalTrials.gov Identifier: NCT00041951     History of Changes
Other Study ID Numbers: GCO 07-1441, R01NS037466
Study First Received: July 19, 2002
Last Updated: August 9, 2012
Health Authority: United States: Institutional Review Board

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

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

ClinicalTrials.gov processed this record on August 18, 2014