NCT06701084NARecruiting

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

Boston Children's Hospital

Start Date

9/2/2021

Completion Date

11/1/2029

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.

Eligibility Criteria

Age Range: No minimum to No maximum

Infant Criteria Inclusion Criteria: * Seizure onset at less than 12 months of age * Enrollment within 6 weeks of seizure-related presentation * Patient at Boston Children's Hospital Exclusion Criteria: * Simple febrile seizures * Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury) * Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex) * Deceased prior to enrollment Parent Criteria Inclusion Criteria - Parent of eligible infant (see above) Exclusion Criteria \- Not the legal guardian of the eligible infant

Interventions

GENETIC

Genomic Sequencing

Interested in This Trial?

Contact the trial locations directly using the information below to learn more about enrollment.

Expressing interest lets you review the study and consent before we connect you with the research site.

Conditions

Neonatal EpilepsyInfantile Epilepsy

Locations

Boston Children's Hospital

Boston, Massachusetts 02115

United States