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.

ClinicalTrials.gov Identifier: NCT01858285

Recruitment Status : Recruiting

First Posted : May 21, 2013

Last Update Posted : October 4, 2018

See Contacts and Locations

Sponsor:

Collaborator:

Boston Children's Hospital Genomics Pilot

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


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 2020
Estimated Study Completion Date :	December 2020

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: CDKL5 deficiency disorder Malignant migrating partial seizures of infancy Pyridoxal 5'-phosphate-dependent epilepsy

MedlinePlus related topics: Epilepsy

Genetic and Rare Diseases Information Center resources: Dravet Syndrome 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

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, Learn About Clinical Studies.


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


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

Boston Children's Hospital Genomics Pilot

Investigators


Principal Investigator:	Annapurna Poduri, MD, MPH	Boston Children’s Hospital

More Information

Additional Information:

Epilepsy Genetics Program at Boston Children's Hospital website This link exits the ClinicalTrials.gov site


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
First Posted:	May 21, 2013 Key Record Dates
Last Update Posted:	October 4, 2018
Last Verified:	October 2018

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 Epilepsies, Myoclonic Spasms, Infantile	Disease Pathologic Processes Central Nervous System Diseases Nervous System Diseases Epilepsy, Generalized

To Top