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Genetics of Severe Early Onset Epilepsies

This study is currently recruiting participants.
Verified August 2017 by Annapurna Poduri, Boston Children's Hospital
Sponsor:
ClinicalTrials.gov Identifier:
NCT01858285
First Posted: May 21, 2013
Last Update Posted: August 25, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Dravet Syndrome Foundation
Information provided by (Responsible Party):
Annapurna Poduri, Boston Children's Hospital
  Purpose
Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to disorders related to epilepsy. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

Condition
Epilepsy Epileptic Encephalopathy Ohtahara Syndrome Infantile Spasms Dravet Syndrome Malignant Migrating Partial Epilepsy of Infancy Early Myoclonic Epileptic Encephalopathy PCDH19-related Epilepsy and Related Conditions

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Genetics of Epilepsy and Related Disorders

Resource links provided by NLM:


Further study details as provided by Annapurna Poduri, Boston Children's Hospital:

Primary Outcome Measures:
  • Identify new or existing causative mutations through whole exome sequencing of epilepsy patients [ Time Frame: 10 years ]
    Use whole exome sequencing to identify genetic mutations. Detailed clinical information will be collected via medical records and patient questionnaire, as well as biological parents' exome sequencing to classify mutations as causative or nonsignificant.


Biospecimen Retention:   Samples With DNA
DNA from whole blood or saliva

Estimated Enrollment: 500
Study Start Date: November 2010
Estimated Primary Completion Date: December 2020 (Final data collection date for primary outcome measure)
Groups/Cohorts
Epilepsy, genetics

Detailed Description:

Many children with epilepsy experience seizures which respond well to treatment. A few types of epilepsy, however, are characterized by seizures which begin very early in childhood and are associated with severe intellectual and/or developmental disabilities. These conditions, known as progressive epileptic encephalopathies, are particularly severe and are often difficult to treat. These syndromes include infantile spasms, early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome), malignant migrating partial epilepsy of infancy, early myoclonic epileptic encephalopathy, and severe myoclonic epilepsy of infancy (Dravet syndrome).

The investigators' current research effort is focused on children with epileptic encephalopathies, in particular Ohtahara syndrome. The investigators' goal is to identify genetic alterations (known as "mutations") that cause Ohtahara syndrome. By doing so the investigators hope to improve diagnosis and treatment for this condition. It is also possible that understanding the genetic basis of Ohtahara syndrome may in some instances make it possible to prevent it from occurring in the future.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Epilepsy
Criteria

Inclusion Criteria:

  • Epilepsy

Exclusion Criteria:

  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): NCT01858285


Locations
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Meredith Park    617-355-5254    epilepsygenetics@childrens.harvard.edu   
Principal Investigator: Annapurna Poduri, MD, MPH         
Sponsors and Collaborators
Boston Children’s Hospital
Dravet Syndrome Foundation
Investigators
Principal Investigator: Annapurna Poduri, MD, MPH Boston Children’s Hospital
  More Information

Additional Information:
Responsible Party: Annapurna Poduri, Principle investigator Annapurna Poduri, MD, MPH, Boston Children's Hospital, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT01858285     History of Changes
Other Study ID Numbers: X10-04-0197
First Submitted: May 9, 2013
First Posted: May 21, 2013
Last Update Posted: August 25, 2017
Last Verified: August 2017

Keywords provided by Annapurna Poduri, Boston Children's Hospital:
Epilepsy
Ohtahara
Dravet
MMPEI
EMEE
EIEE

Additional relevant MeSH terms:
Epilepsy
Epilepsies, Partial
Epilepsies, Myoclonic
Epilepsy, Generalized
Syndrome
Brain Diseases
Spasms, Infantile
Disease
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases