Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genomic Sequencing.
- Who it may be relevant to
- Registry conditions: Neonatal Epilepsy, Infantile Epilepsy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)
Overview
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.
Detailed description
Infantile epilepsies are common, affecting 1 in 1000 infants, and are associated with significant morbidity, mortality, healthcare costs, and caregiver burden. Although most infantile epilepsies are believed to have genetic causes, most infants with epilepsy remain genetically "unsolved" and the full genetic landscape of infantile epilepsies is unknown, which limits our ability to develop precision therapies and ultimately improve outcomes for this vulnerable population. This study aims to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families, contributing to knowledge that will inform our scientific understanding of normal and abnormal brain development and guide clinical care and implementation of precision medicine for infants with epilepsy.
Interventions
- Genetic Genomic Sequencing
Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
Primary outcome measures
- 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]
Secondary outcome measures (3)
- Developmental progress [Time frame: Collected when infant is 2.5 years old]
- Seizure frequency [Time frame: 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 [Time frame: Collected when infant is 2.5 years old]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Health services research
Study locations
United States · 1 center
- Boston Children's Hospital — Boston
Identifiers
NCT: NCT06701084 · 1K23NS140397