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Genetics of Severe Early Onset Epilepsies

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ClinicalTrials.gov Identifier: NCT01858285
Recruitment Status : Recruiting
First Posted : May 21, 2013
Last Update Posted : July 8, 2020
Sponsor:
Information provided by (Responsible Party):
Annapurna Poduri, Boston Children's Hospital

Study Description
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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.

Study Design
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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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Epilepsy

Groups and Cohorts
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Group/Cohort
Epilepsy, genetics


Outcome Measures
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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.

Eligibility Criteria
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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
Epilepsy
Criteria

Inclusion Criteria:

  • Epilepsy

Exclusion Criteria:

-

Contacts and Locations
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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
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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Emma Sexton    857-218-5537    epilepsygenetics@childrens.harvard.edu   
Principal Investigator: Annapurna Poduri, MD, MPH         
Sponsors and Collaborators
Boston Children's Hospital
Investigators
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Principal Investigator: Annapurna Poduri, MD, MPH Boston Children's Hospital
More Information
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Additional Information:

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Responsible Party: Annapurna Poduri, Principle investigator Annapurna Poduri, MD, MPH, Boston Children's Hospital, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT01858285    
Other Study ID Numbers: X10-04-0197
First Posted: May 21, 2013    Key Record Dates
Last Update Posted: July 8, 2020
Last Verified: July 2020
Keywords provided by Annapurna Poduri, Boston Children's Hospital:
Epilepsy
Ohtahara
Dravet
 MMPEI
EMEE
EIEE
Additional relevant MeSH terms:
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Epilepsy
Brain Diseases
Epilepsies, Partial
Epilepsies, Myoclonic
Spasms, Infantile
Syndrome
 Disease
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases
Epilepsy, Generalized
Epileptic Syndromes