NCT01858285

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5,000

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started Nov 2010

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress77%
Nov 2010Dec 2030

Study Start

First participant enrolled

November 1, 2010

Completed
2.5 years until next milestone

First Submitted

Initial submission to the registry

May 9, 2013

Completed
12 days until next milestone

First Posted

Study publicly available on registry

May 21, 2013

Completed
17.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2030

Last Updated

January 9, 2026

Status Verified

November 1, 2024

Enrollment Period

20.1 years

First QC Date

May 9, 2013

Last Update Submit

January 7, 2026

Conditions

EpilepsyEpileptic Encephalopathy

Keywords

EpilepsyGenetic

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (1)

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

Interventions

Exome and/or whole genome sequencingGENETIC
BCH Children's Rare Disease Cohort (CRDC)

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with epilepsy. Age and epilepsy type variable.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

DNA from whole blood, saliva, or buccal swabs.

MeSH Terms

Conditions

Epilepsy

Condition Hierarchy (Ancestors)

Brain DiseasesCentral Nervous System DiseasesNervous System Diseases

Study Officials

  • Alissa D'Gama, MD, PhD

    Boston Children's Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Lacey Smith, MS, CGC

CONTACT

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

D'Gama Lab

CONTACT

dgamalab@childrens.harvard.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assistant Professor of Pediatrics

Study Record Dates

First Submitted

May 9, 2013

First Posted

May 21, 2013

Study Start

November 1, 2010

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Last Updated

January 9, 2026

Record last verified: 2024-11

Locations

US(1)