Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Genomic Sequencing | Experimental | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genomic Sequencing | Genetic | Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic Yield | The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled infants with epilepsy who receive a genetic diagnosis. | 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. | 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. | Collected when infant is 2.5 years old |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Collected when infant is 2.5 years old |
Not provided
Infant Criteria
Inclusion Criteria:
Exclusion Criteria:
Parent Criteria Inclusion Criteria - Parent of eligible infant (see above)
Exclusion Criteria
- Not the legal guardian of the eligible infant
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Beth R Sheidley, MS | Contact | 8572185533 | beth.sheidley@childrens.harvard.edu |
| Name | Affiliation | Role |
|---|---|---|
| Alissa M D'Gama, MD, PhD | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 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. |
| Collected at return of genetic results approximately 2 weeks after infant is enrolled and when infant is 2.5 years old |
| 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. | Collected when infant is 2.5 years old |