Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
NCT ID: NCT06701084
Last Updated: 2024-11-22
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
NA
600 participants
INTERVENTIONAL
2021-09-02
2029-11-30
Brief Summary
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
HEALTH_SERVICES_RESEARCH
NONE
Study Groups
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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.
Genomic Sequencing
Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
Interventions
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Genomic Sequencing
Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
Eligibility Criteria
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Inclusion Criteria
* Enrollment within 6 weeks of seizure-related presentation
* Patient at Boston Children's Hospital
Exclusion Criteria
* 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
ALL
No
Sponsors
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Boston Children's Hospital
OTHER
Responsible Party
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Alissa D'Gama
Instructor of Pediatrics
Principal Investigators
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Alissa M D'Gama, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Boston Children's Hospital
Locations
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Boston Children's Hospital
Boston, Massachusetts, United States
Countries
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Central Contacts
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Facility Contacts
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Alissa M D'Gama, MD, PhD
Role: backup
Other Identifiers
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