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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 : October 4, 2018
Boston Children's Hospital Genomics Pilot
Information provided by (Responsible Party):
Annapurna Poduri, Boston Children’s Hospital

Tracking Information
First Submitted Date May 9, 2013
First Posted Date May 21, 2013
Last Update Posted Date October 4, 2018
Study Start Date November 2010
Estimated Primary Completion Date December 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 16, 2013)
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.
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT01858285 on Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Genetics of Severe Early Onset Epilepsies
Official Title Genetics of Epilepsy and Related Disorders
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.
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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
DNA from whole blood, saliva, or buccal swabs.
Sampling Method Non-Probability Sample
Study Population Epilepsy
  • 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
Intervention Not Provided
Study Groups/Cohorts Epilepsy, genetics
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: October 3, 2018)
Original Estimated Enrollment
 (submitted: May 16, 2013)
Estimated Study Completion Date December 2020
Estimated Primary Completion Date December 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Epilepsy

Exclusion Criteria:


Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01858285
Other Study ID Numbers X10-04-0197
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Annapurna Poduri, Boston Children’s Hospital
Study Sponsor Boston Children’s Hospital
Collaborators Boston Children's Hospital Genomics Pilot
Principal Investigator: Annapurna Poduri, MD, MPH Boston Children’s Hospital
PRS Account Boston Children’s Hospital
Verification Date October 2018