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Genetics of Severe Early Onset Epilepsies

This study is currently recruiting participants.
See Contacts and Locations
Verified August 2017 by Annapurna Poduri, Boston Children's Hospital
Sponsor:
Collaborator:
Dravet Syndrome Foundation
Information provided by (Responsible Party):
Annapurna Poduri, Boston Children's Hospital
ClinicalTrials.gov Identifier:
NCT01858285
First received: May 9, 2013
Last updated: August 24, 2017
Last verified: August 2017
  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

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
Study First Received: May 9, 2013
Last Updated: August 24, 2017

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

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

ClinicalTrials.gov processed this record on September 21, 2017