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NCT Number: NCT01858285

Genetics of Epilepsy and Related Disorders

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.

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Key information

Conditions

Epilepsy Brain Diseases Central Nervous System Diseases Epileptic Encephalopathy Nervous System Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location status: Recruiting

Location contact

Alissa D'Gama, MD, PhD

PRINCIPAL_INVESTIGATOR

Heather Olson, MD

PRINCIPAL_INVESTIGATOR

Lacey Smith, MS, CGC

CONTACT

617-355-5254

Lacey Smith, MS,CGC

CONTACT

[email protected]

857-218-32395533

About this study

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:

  • Identifying genetic findings in patients with epilepsy and related disorders.
  • Correlating genetic findings with epilepsy phenotypes.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Exome and/or whole genome sequencing

Genetic

Primary outcomes

  1. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

D'Gama Lab

CONTACT

[email protected]

Lacey Smith, MS, CGC

CONTACT

[email protected]

857-218-3239

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Registry information

Important dates

Study start
2010
Primary completion
2030
Study completion
2030
First posted
May 21, 2013
Registry last updated
Jan 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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