RecruitingNot ApplicableNCT06701084
Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)
Sponsor
Boston Children's Hospital
Enrollment
600 participants
Start Date
Sep 2, 2021
Study Type
INTERVENTIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- Infant 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 Criteria5
- 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
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Interventions
GENETICGenomic Sequencing
Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06701084