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 27, 2021

See Contacts and Locations

Sponsor:

Information provided by (Responsible Party):

Annapurna Poduri, Boston Children's Hospital

Study Description

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 Genetics related topics: Pyridoxal 5'-phosphate-dependent epilepsy Malignant migrating partial seizures of infancy

MedlinePlus related topics: Epilepsy

Genetic and Rare Diseases Information Center resources: Dravet Syndrome CDKL5 Deficiency Disorder West Syndrome Early Infantile Epileptic Encephalopathy Malignant Migrating Partial Seizures of Infancy

U.S. FDA Resources

Groups and Cohorts

Group/Cohort
Epilepsy, genetics

Outcome Measures

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, saliva, or buccal swabs.

Eligibility Criteria

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

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

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United States, Massachusetts
Boston Children's Hospital	Recruiting
Boston, Massachusetts, United States, 02115
Contact: Rebecca Pinsky 617-355-5254 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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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 27, 2021
Last Verified:	July 2021

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

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