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Search for Genes Influencing Childhood Absence Epilepsy Study
This study is currently recruiting participants.
Verified by National Institute of Neurological Disorders and Stroke (NINDS), October 2008
First Received: July 19, 2002   Last Updated: October 15, 2008   History of Changes
Sponsors and Collaborators: Mount Sinai School of Medicine
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier: NCT00041951
  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

Genetics Home Reference related topics: pyridoxal 5'-phosphate-dependent epilepsy pyridoxine-dependent epilepsy
MedlinePlus related topics: Epilepsy Seizures
U.S. FDA Resources
Study Type: Observational
Study Design: Case Control, Prospective
Official Title: Search for Genes Influencing Childhood Absence Epilepsy Study

Further study details as provided by National Institute of Neurological Disorders and Stroke (NINDS):

Biospecimen Retention:   Samples With DNA

Biospecimen Description:

whole blood, saliva


Estimated Enrollment: 1000
Study Start Date: December 1998
Estimated Study Completion Date: March 2010
Groups/Cohorts
1
whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios)
2
healthy individuals without 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. Investigating whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios) and 2.

comparing patients with CAE to healthy individuals without epilepsy.

Participation in this study requires an interview regarding medical and family history and blood drawing or saliva collection from all available family members of families with many epilepsy cases. Parents and children with absence from families without a family history of seizures are asked to provide a small amount of saliva (spit) only. Healthy volunteers without epilepsy or a family history of seizures are asked 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, blood tests can be arranged at locations elsewhere at no cost to participants or their insurance. Researchers will also travel to subject's home. For the collection of saliva, special containers are provided and can be shipped by mail.

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

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 with classical (typical) Childhood Absence Epilepsy and their families.

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

Contacts
Contact: Sandra Wrigley 877-223-5900 sandra.wrigley@mssm.edu

Locations
United States, New York
Department of Psychiatry, Mount Sinai School of Medicine, Aron Hall, Suite 1B Right, 50 E. 98th Street Recruiting
New York, New York, United States, 10029
Contact: Sandra Wrigley     877-223-5900     sandra.wrigley@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

No publications provided

Responsible Party: Mount Sinai School of Medicine ( Martina Durner, MD, Associate Professor of Psychiatry )
Study ID Numbers: R01NS37466
Study First Received: July 19, 2002
Last Updated: October 15, 2008
ClinicalTrials.gov Identifier: NCT00041951     History of Changes
Health Authority: United States: Federal Government

Keywords provided by National Institute of Neurological Disorders and Stroke (NINDS):
childhood absence epilepsy
CAE
epilepsy
seizures
epileptiform EEG pattern
genetic linkage

Study placed in the following topic categories:
Signs and Symptoms
Epilepsy
Epilepsy, Absence
Seizures
Neurologic Manifestations
Central Nervous System Diseases
Epilepsy, Generalized
Brain Diseases
Epilepsy Juvenile Absence

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

ClinicalTrials.gov processed this record on May 07, 2009