Clinical trial NCT06701084: Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
Official title: Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Neonatal Epilepsy
Infantile Epilepsy
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
First posted: 2024-11-22
Enrollment: 600
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: HEALTH_SERVICES_RESEARCH

Brief 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: 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

Primary outcomes:
measure: Diagnostic Yield
timeFrame: Collected after return of genetic results approximately 2 weeks after infant is enrolled
measure: Short-term clinical utility of genetic testing
timeFrame: Collected after return of genetic results approximately 2 weeks after infant is enrolled
measure: Parent-perceived (personal) utility of genetic testing
timeFrame: Collected when infant is 2.5 years old
Secondary outcomes:
measure: Developmental progress
timeFrame: Collected when infant is 2.5 years old
measure: Seizure frequency
timeFrame: Collected at return of genetic results approximately 2 weeks after infant is enrolled and when infant is 2.5 years old
measure: Parental experiences with genetic testing
timeFrame: Collected when infant is 2.5 years old
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
affiliation: Boston Children's Hospital
name: Alissa M D'Gama, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: