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

Conditions

• Infantile Epilepsy
• Neonatal Epilepsy

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

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

Study Details

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.

Key Dates

Start date

Sep 2, 2021

Status verified

Apr 2026

Primary completion

Nov 30, 2029

Completion

Nov 30, 2029

Study Design

Enrollment

600 participants (estimated)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

HEALTH_SERVICES_RESEARCH

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.

Primary Outcome Measure

Diagnostic Yield [ Time Frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled ]

Central Contacts

• Beth R Sheidley, MS
  8572185533
  [email protected]

Locations (1)

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