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.
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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Enrollment
600
Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
Boston Children's Hospital
Boston, Massachusetts, United States
RECRUITINGDiagnostic Yield
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled infants with epilepsy who receive a genetic diagnosis.
Time frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled
Short-term clinical utility of genetic testing
The short-term clinical utility of genetic testing will be evaluated using the validated C-GUIDE measure. The C-GUIDE total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled
Parent-perceived (personal) utility of genetic testing
The parent-perceived utility of genetic testing will be evaluated using the validated GENE-U measure. The GENE-U total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame: Collected when infant is 2.5 years old
Developmental progress
Developmental progress will be evaluated using the Bayley Scales of Infant and Toddler Development Fourth Edition. The cognitive, language, and motor subscale scores will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame: Collected when infant is 2.5 years old
Seizure frequency
The seizure frequency will be evaluated using the seizure frequency outcome measure developed by the American Academy of Neurology and dichotomized as decrease vs no decrease between the two timepoints. The percentage of infants with this outcome will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Time frame: Collected at return of genetic results approximately 2 weeks after infant is enrolled and when infant is 2.5 years old
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Parental experiences with genetic testing
This outcome will be evaluated using a qualitative approach. Semi-structured interviews will be performed with a subset of parents using purposive sampling and will be analyzed using a grounded theory iterative approach.
Time frame: Collected when infant is 2.5 years old