Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)
Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY
The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Seizure onset at less than 12 months of age
• Enrollment within 6 weeks of seizure-related presentation
• Patient at Boston Children's Hospital
Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Contact Information
Primary
Beth R Sheidley, MS
beth.sheidley@childrens.harvard.edu
8572185533
Time Frame
Start Date: 2021-09-02
Estimated Completion Date: 2029-11
Participants
Target number of participants: 600
Treatments
Experimental: Genomic Sequencing
All enrolled infants receive the intervention (genomic sequencing, including rapid genome sequencing). Comprehensive genomic analyses will be performed to identify genetic diagnoses. Genetic results will be returned to families and infants will be followed until 2.5 years old to evaluate the impact of genetic diagnosis using quantitative validated outcome measures and qualitative parent interviews.
Related Therapeutic Areas
Sponsors
Leads: Boston Children's Hospital