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Genetics of Severe Early Onset Epilepsies

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. Identifier: NCT01858285
Recruitment Status : Recruiting
First Posted : May 21, 2013
Last Update Posted : July 27, 2021
Information provided by (Responsible Party):
Annapurna Poduri, Boston Children's Hospital

Brief Summary:
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 or disease
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

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Genetics of Epilepsy and Related Disorders
Study Start Date : November 2010
Estimated Primary Completion Date : December 2030
Estimated Study Completion Date : December 2030

Epilepsy, genetics

Primary Outcome Measures :
  1. 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, saliva, or buccal swabs.

Information from the National Library of Medicine

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

Inclusion Criteria:

  • Epilepsy

Exclusion Criteria:


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 identifier (NCT number): NCT01858285

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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Rebecca Pinsky    617-355-5254   
Principal Investigator: Annapurna Poduri, MD, MPH         
Sponsors and Collaborators
Boston Children's Hospital
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Principal Investigator: Annapurna Poduri, MD, MPH Boston Children's Hospital
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Responsible Party: Annapurna Poduri, Principle investigator Annapurna Poduri, MD, MPH, Boston Children's Hospital, Boston Children's Hospital Identifier: NCT01858285    
Other Study ID Numbers: X10-04-0197
First Posted: May 21, 2013    Key Record Dates
Last Update Posted: July 27, 2021
Last Verified: July 2021
Keywords provided by Annapurna Poduri, Boston Children's Hospital:
Additional relevant MeSH terms:
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Brain Diseases
Epilepsies, Partial
Epilepsies, Myoclonic
Spasms, Infantile
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases
Epilepsy, Generalized
Epileptic Syndromes