Exploring genetic causes of infantile epilepsies and their effects
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)
Run by Boston Children's Hospital · NCT06701084 · Data updated 2026-11-12
This study is trying to find new genetic causes of infantile epilepsies in babies to see how these discoveries can help improve care for them and their families.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 600 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | September 2, 2021 |
| Main results expected | November 2029 |
| Study ends | November 2029 |
| Registry record updated | April 27, 2026 |
| Trial ID | NCT06701084 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are infants under 12 months old who have experienced seizures and are being treated at Boston Children's Hospital.
✕Probably not a fit
Patients with identified genetic causes of epilepsy or those who have experienced simple febrile seizures may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to identify new genetic causes of infantile epilepsies, which affect approximately 1 in 1000 infants, and assess how these genetic discoveries impact the affected infants and their families. By enrolling infants with seizure onset before 12 months and conducting genomic sequencing, the research seeks to fill the gaps in understanding the genetic landscape of these conditions. The findings will contribute to the development of precision therapies and improve clinical care for this vulnerable population.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and targeted treatments for infants suffering from epilepsy.
How similar studies have gone: Other studies have shown promise in identifying genetic causes of epilepsy, making this approach both relevant and potentially impactful.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Principal investigator: Alissa M D'Gama, MD, PhD — Boston Children's Hospital
- Study coordinator: Beth R Sheidley, MS
- Email: beth.sheidley@childrens.harvard.edu
- Phone: 8572185533
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.