Genetics of Epilepsy and Related Disorders

Recruiting

• Conditions: Infantile Spasms; Early Myoclonic Epileptic Encephalopathy; KCNQ2-Related Epileptic Encephalopathy; Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; PCDH19-related Epilepsy and Related Conditions; Dravet Syndrome; Epilepsy of Infancy With Migrating Focal Seizures (Disorder)
• Interventions: Genetic: Exome and/or whole genome sequencing

• Registration Number: NCT01858285
• Lead Sponsor: Boston Children's Hospital

Brief 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.

Detailed 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.

Study Timeline

• Study Start: 2010-11
• Study First Submitted: 2013-05-09
• Study First Submitted QC: 2013-05-16
• Study First Posted: 2013-05-21
• Status Verified: 2024-11
• Last Update Submitted: 2024-11-19
• Last Update Posted: 2024-11-21
• Primary Completion: 2030-12
• Study Completion: 2030-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 5000

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
BCH Children's Rare Disease Cohort (CRDC)	Exome and/or whole genome sequencing	Individuals with epilepsy, onset at any age. Must be followed clinically at Boston Children's Hospital. Research trio-based exome and/or whole genome with CLIA confirmation of diagnostic findings. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.
Gene-STEPS (Shortening Time of Evaluation in Paediatric Epilepsy Services)	Exome and/or whole genome sequencing	Collaborative effort of consortium including BCH, Great Ormond Street Hospital, Royal Children's Hospital Melbourne and Murdoch Children's Research Institute, and The Hospital for Sick Children. For BCH cohort, eligibility limited to individuals presenting clinically at BCH with seizure onset at less than 12 months of age. Must be enrolled within six weeks of first seizure-related presentation to BCH. Clinical trio-based rapid whole genome sequencing in a CLIA laboratory. Exclusions include: Simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology.
Epilepsy Core	Exome and/or whole genome sequencing	Individuals with epilepsy, onset at any age. Research trio-based exome and/or whole genome. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.

Primary Outcome Measures

Name	Time	Method
Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.	10 years	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.

Trial Locations

Locations (1)

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States