Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study

Epilepsy Clinical Trial

Official title:

Search for Genes Influencing Childhood Absence Epilepsy Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00041951
• Other study ID #: GCO 07-1441
• Secondary ID: R01NS037466
• Status: Completed
• Phase: N/A
• First received: July 19, 2002
• Last updated: May 31, 2016
• Start date: December 1998
• Est. completion date: July 2014

Study information

• Verified date: May 2016
• Source: Icahn School of Medicine at Mount Sinai
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 185
• Est. completion date: July 2014
• Est. primary completion date: July 2014
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 3 Years and older

Eligibility

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.

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Childhood Absence Epilepsy
• Epilepsy
• Epilepsy, Absence
• Seizures

Locations

Country	Name	City	State
United States	Icahn School of Medicine at Mount Sinai	New York	New York

Sponsors (2)

Lead Sponsor	Collaborator
Icahn School of Medicine at Mount Sinai	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Saliva sample		at baseline	No