Genetics of Epilepsy and Related Disorders

January 7, 2026 updated by: Alissa D'Gama, Boston Children's Hospital
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

5000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Boston Children's Hospital
        • Principal Investigator:
          • Heather Olson, MD
        • Contact:
          • Lacey Smith, MS, CGC
          • Phone Number: 617-355-5254
        • Principal Investigator:
          • Alissa D'Gama, MD, PhD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with epilepsy. Age and epilepsy type variable.

Description

inclusion: diagnosis of epilepsy, patient at Boston Children's Hospital exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain, not seen at Boston Children's Hospital

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
BCH Children's Rare Disease Cohort (CRDC)
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.
Genetic: Exome and/or whole genome sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.
Time Frame: 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.
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Boston Children's Hospital

Investigators

  • Principal Investigator: Alissa D'Gama, MD, PhD, Boston Children's Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2010

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Study Registration Dates

First Submitted

May 9, 2013

First Submitted That Met QC Criteria

May 16, 2013

First Posted (Estimated)

May 21, 2013

Study Record Updates

Last Update Posted (Estimated)

January 9, 2026

Last Update Submitted That Met QC Criteria

January 7, 2026

Last Verified

November 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • X10-04-0197

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Epilepsy

Clinical Trials on Exome and/or whole genome sequencing

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mongolia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe