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

NCT06701084 | Recruiting

• 1 other identifier: 1K23NS140397
• Study Type: interventional
• Target: 600
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (3)

• 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

Secondary Outcomes (3)

• Developmental progress

  Collected when infant is 2.5 years old

• Seizure frequency

  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

  Collected when infant is 2.5 years old

Study Arms (1)

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.

Genetic: Genomic Sequencing

Interventions

Genomic Sequencing GENETIC

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

Genomic Sequencing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Seizure onset at less than 12 months of age
• Enrollment within 6 weeks of seizure-related presentation
• Patient at Boston Children's Hospital

You may not qualify if:

• 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
• \- Not the legal guardian of the eligible infant

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Study Officials

• Alissa M D'Gama, MD, PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Beth R Sheidley, MS

CONTACT

8572185533; beth.sheidley@childrens.harvard.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Pediatrics

Study Record Dates

• First Submitted: November 19, 2024
• First Posted: November 22, 2024
• Study Start: September 2, 2021
• Primary Completion (Estimated): November 1, 2029
• Study Completion (Estimated): November 1, 2029
• Last Updated: April 27, 2026

Record last verified: 2026-04

Locations

US (1)