Recruiting

Genetic Testing

Sponsor:

Boston Children's Hospital

Code:

NCT01858285

Conditions

Epilepsy

Epileptic Encephalopathy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Exome and/or whole genome sequencing

Study Details

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.

Conditions

Epilepsy

Epileptic Encephalopathy

Study ID

NCT01858285

Start date

Nov, 2010

Status verified date

Nov, 2024

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Interventions

Exome and/or whole genome sequencing

Primary outcome measure

  • Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy. [ Time Frame: 10 years ]

Central Contacts and Locations

Central contacts

Lacey Smith, MS, CGC

857-218-3239lacey.smith@childrens.harvard.edu

D'Gama Lab

dgamalab@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Lacey Smith, MS,CGC

857-218-32395533lacey.smith@childrens.harvard.edu

Lacey Smith, MS, CGC

617-355-5254

Principal Investigator:

Alissa D'Gama, MD, PhD

More Information

Sponsor

Boston Children's Hospital

Last update posted

Jan 9, 2026

Last verified

Nov, 2024

Keywords

  • Epilepsy
  • Genetic

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-01-09.