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

Boston Children's Hospital

Status: Enrolling

Conditions: Neonatal Epilepsy; Infantile Epilepsy

Treatments: Genetic: Genomic Sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT06701084

1K23NS140397

Details and patient eligibility

About

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.

Full 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.

Enrollment: 600 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

Primary purpose: Health Services Research

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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600 participants in 1 patient group

Genomic Sequencing

Experimental group

Description:

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.

Treatment:

Genetic: Genomic Sequencing