Recruiting

Genetic Diagnosis

Sponsor:

Boston Children's Hospital

Code:

NCT06701084

Conditions

Neonatal Epilepsy

Infantile Epilepsy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Genomic Sequencing

Study Details

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.

Conditions

Neonatal Epilepsy

Infantile Epilepsy

Study ID

NCT06701084

Start date

Sep 2, 2021

Status verified date

Apr, 2026

Completion date

Nov, 2029

Anticipated

Primary completion date

Nov, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

600 participants

Anticipated

Intervention Model

Single group

Primary purpose

Health Services Research

Interventions and Outcome Measures

Arms

experimental: Genomic Sequencing

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.

Interventions

Genomic Sequencing

Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.

Primary outcome measure

  • Diagnostic Yield [ Time Frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled ]
  • Short-term clinical utility of genetic testing [ Time Frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled ]
  • Parent-perceived (personal) utility of genetic testing [ Time Frame: Collected when infant is 2.5 years old ]

Central Contacts and Locations

Central contacts

Beth R Sheidley, MS

8572185533beth.sheidley@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Beth R Sheidley, MS

8572185533beth.sheidley@childrens.harvard.edu

Principal Investigator:

Alissa M D'Gama, MD, PhD

More Information

Sponsor

Boston Children's Hospital

Last update posted

Apr 27, 2026

Last verified

Apr, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-23. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-04-27.