Genetics of Epilepsy and Related Disorders

Epilepsy Clinical Trial

Official title:

Genetics of Epilepsy and Related Disorders

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01858285
• Other study ID #: X10-04-0197
• Status: Recruiting
• Start date: November 2010
• Est. completion date: December 2030

Study information

• Verified date: January 2024
• Source: Boston Children's Hospital
• Contact: Beth R Sheidley, MS
• Phone: 8572185533
• Email: beth.sheidley[@]childrens.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to epilepsy and related disorders. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

Description:

Many individuals with epilepsy experience seizures which respond well to treatment. Some 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 are often difficult to treat.

The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause epilepsy. By doing so the investigators hope to improve diagnosis and treatment for this epilepsy.

We have two specific aims:

1. Identifying genetic findings in patients with epilepsy and related disorders.

2. Correlating genetic findings with epilepsy phenotypes.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: December 2030
• Est. primary completion date: December 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

For Gene-STEPS:

inclusion: seizure onset at less than 12 months of age, must be enrolled within 6 weeks of first seizure-related presentation to BCH exclusion: simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology

For BCH CRDC:

inclusion: diagnosis of epilepsy, patient at BCH exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain

For Core cohort:

inclusion: diagnosis of epilepsy exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain

For Phenotyping cohort:

inclusion: diagnosis of a genetic epilepsy exclusion: no genetic diagnosis or diagnosis of other genetic condition that does not include epilepsy phenotype

Related Conditions & MeSH terms

• Brain Diseases
• Dravet Syndrome
• Early Myoclonic Epileptic Encephalopathy
• Epilepsies, Myoclonic
• Epilepsy
• Epileptic Encephalopathy
• Infantile Spasms
• Ohtahara Syndrome
• PCDH19-related Epilepsy and Related Conditions
• Seizures
• Spasms, Infantile
• Syndrome

Intervention

Genetic:
• Exome and/or whole genome sequencing

Locations

Country	Name	City	State
United States	Boston Children's Hospital	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Boston Children's Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.	Use exome and/or whole genome sequencing to identify genetic variants. Detailed clinical information will be collected via medical records and patient questionnaire, as well as biological parents' exome sequencing to classify variants per ACMG guidelines.	10 years

External Links

•   Epilepsy Genetics Program at Boston Children's Hospital website