Neonatal EpilepsyNCT06701084
Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
A study testing Genomic Sequencing in people with Neonatal Epilepsy and Infantile Epilepsy, run by Boston Children's Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neonatal Epilepsy, Infantile Epilepsy
- What is being tested?
- Genomic Sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- 2 Sep 2021to Nov 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Seizure onset at less than 12 months of age
- Enrollment within 6 weeks of seizure-related presentation
- Patient at Boston Children's Hospital
Who cannot join
- 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)
- Not the legal guardian of the eligible infant
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Beth R Sheidley, MS, 8572185533, beth.sheidley@childrens.harvard.edu
Alissa M D'Gama, MD, PhD
About this study
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)
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.
Read the 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.
- Conditions
- Neonatal Epilepsy, Infantile Epilepsy
- Being tested
- Genomic Sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genomic SequencingGenetic
Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.
| Study group | Role | What they receive |
|---|---|---|
| Genomic Sequencing | Experimental | 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. Receives: Genetic: Genomic Sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic Yield
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled infants with epilepsy who receive a genetic diagnosis.
Measured: Collected after return of genetic results approximately 2 weeks after infant is enrolled
Short-term clinical utility of genetic testing
The short-term clinical utility of genetic testing will be evaluated using the validated C-GUIDE measure. The C-GUIDE total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Measured: Collected after return of genetic results approximately 2 weeks after infant is enrolled
Parent-perceived (personal) utility of genetic testing
The parent-perceived utility of genetic testing will be evaluated using the validated GENE-U measure. The GENE-U total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Measured: Collected when infant is 2.5 years old
Secondary outcomes (3)
Developmental progress
Developmental progress will be evaluated using the Bayley Scales of Infant and Toddler Development Fourth Edition. The cognitive, language, and motor subscale scores will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Measured: Collected when infant is 2.5 years old
Seizure frequency
The seizure frequency will be evaluated using the seizure frequency outcome measure developed by the American Academy of Neurology and dichotomized as decrease vs no decrease between the two timepoints. The percentage of infants with this outcome will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Measured: 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
This outcome will be evaluated using a qualitative approach. Semi-structured interviews will be performed with a subset of parents using purposive sampling and will be analyzed using a grounded theory iterative approach.
Measured: Collected when infant is 2.5 years old
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Nov 2024
- Study start2 Sep 2021
- Primary completionNov 2029 (estimated)
- Study completionNov 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neonatal EpilepsyStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Alissa D'Gama, Boston Children's Hospital
- Investigators
- Alissa M D'Gama, MD, PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06701084
- Sponsor's protocol ID
- 1K23NS140397
- Status last verified
- Apr 2026
- First submitted
- 19 Nov 2024
- Last updated
- 27 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT06701084
- Acronym / sponsor ID
- 1K23NS140397
- Conditions
- Neonatal Epilepsy, Infantile Epilepsy
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- 2 Sep 2021 (actual)
- Primary completion
- Nov 2029 (estimated)
- Study completion
- Nov 2029 (estimated)
- First posted
- 22 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Health services research
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genomic Sequencing | Experimental | Genetic: Genomic SequencingAll 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Seizure onset at less than 12 months of age
- Enrollment within 6 weeks of seizure-related presentation
- Patient at Boston Children's Hospital
Key exclusion criteria (6 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genomic SequencingGenomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy. | Genetic | Genomic Sequencing |
Primary outcome
Diagnostic Yield
Time frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled infants with epilepsy who receive a genetic diagnosis.
Short-term clinical utility of genetic testing
Time frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled
The short-term clinical utility of genetic testing will be evaluated using the validated C-GUIDE measure. The C-GUIDE total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
Parent-perceived (personal) utility of genetic testing
Time frame: Collected when infant is 2.5 years old
The parent-perceived utility of genetic testing will be evaluated using the validated GENE-U measure. The GENE-U total score will be compared between infants with epilepsy who did vs did not receive a genetic diagnosis.
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Apr 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alissa M D'Gama, MD, PhD principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genomic Sequencing in people with Neonatal Epilepsy and Infantile Epilepsy, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Beth R Sheidley, MS (8572185533, beth.sheidley@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic Yield (time frame: Collected after return of genetic results approximately 2 weeks after infant is enrolled). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Apr 2026.