Actively Recruiting
Genetics of Epilepsy and Related Disorders
Led by Boston Children's Hospital · Updated on 2026-01-09
5000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers at Boston Children's Hospital are conducting an observational study to better understand the genetic factors that may contribute to epilepsy and related disorders. The study focuses on identifying DNA variants in individuals with epilepsy, especially those with seizures starting early in childhood and associated developmental disabilities. The goal is to improve diagnosis and treatment by linking genetic findings with different epilepsy types and clinical outcomes. Participants include individuals with epilepsy of any age who receive clinical care at Boston Children's Hospital. The research involves trio-based exome and/or whole genome sequencing to identify genetic variants. Findings that are diagnostic will be confirmed using Clinical Laboratory Improvement Amendments (CLIA) standards. People with an existing genetic diagnosis, known cause of epilepsy, or structural brain malformations are not included. During the study, researchers will collect genetic data and correlate it with epilepsy characteristics. The main measurement is identifying pathogenic genetic variants through sequencing over a 10-year period. Participants will be observed and their clinical information reviewed. The study does not involve treatment changes but aims to enhance understanding of epilepsy genetics through detailed genetic analysis and clinical correlation.
CONDITIONS
Brief Title
Genetics of Epilepsy and Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of epilepsy
- Patient must be followed clinically at Boston Children's Hospital
You will not qualify if you...
- Existing genetic diagnosis or known cause for epilepsy
- Structural malformation of the brain
- Not seen at Boston Children's Hospital
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 10 years
Participants undergo exome and/or whole genome sequencing to identify genetic variants associated with epilepsy.
1 baseline visit with genetic testing
Duration - Up to 10 years
Participants are monitored over time to correlate genetic findings with epilepsy phenotypes.
Follow-up visits as part of clinical care at Boston Children's Hospital
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
L
Lacey Smith, MS, CGC
D
D'Gama Lab
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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