NCT06701084

Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

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
• Phase: N/A
• Study type: Interventional
• Enrollment: 600 (estimated)
• Sponsor: Boston Children's Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed description

Infantile epilepsies are common, affecting 1 in 1000 infants, and are associated with significant morbidity, mortality, healthcare costs, and caregiver burden. Although most infantile epilepsies are believed to have genetic causes, most infants with epilepsy remain genetically "unsolved" and the full genetic landscape of infantile epilepsies is unknown, which limits our ability to develop precision therapies and ultimately improve outcomes for this vulnerable population. This study aims to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families, contributing to knowledge that will inform our scientific understanding of normal and abnormal brain development and guide clinical care and implementation of precision medicine for infants with epilepsy.

Conditions

• Neonatal Epilepsy
• Infantile Epilepsy

Interventions

Type	Name	Description
GENETIC	Genomic Sequencing	Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.

Timeline

• Start date: 2021-09-02
• Primary completion: 2029-11-01
• Completion: 2029-11-01
• First posted: 2024-11-22
• Last updated: 2024-11-22

Locations

1 site across 1 country: United States