Summary
The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.
Conditions
Neonatal Seizure, Hypoxic-Ischemic Encephalopathy, Stroke, Intracranial Hemorrhage, Epilepsy, Gene Abnormality
Recruitment Status
Recruiting
Detailed Description
Neonatal seizures due to brain injury (acute provoked seizures) are associated with high risk of post-neonatal epilepsy. Although clinical risk factors can help predict which children are at highest risk for epilepsy, little is known about how genetic factors modify the risk for epilepsy after acute provoked neonatal seizures. The Neonatal Seizure Registry - GENetics of Epilepsy (NSR-GENE) study will test the central hypothesis that children who develop post-neonatal epilepsy are more likely to have pathogenic variants in epilepsy genes, and enrichment in single nucleotide polymorphisms within key inflammatory, neurotransmitter transport and homeostasis, and neurotrophic gene pathways as compared with children who do not develop unprovoked seizures before age five years, and that these can be added to traditional clinical risk factors to predict epilepsy after neonatal seizures.
Eligibility Criteria
Inclusion Criteria:
Children < 44 weeks postmenstrual age at seizure onset
Seizures due to an acute provoked cause (including, but not limited to HIE, ischemic stroke, or intracranial hemorrhage)
Parent(s) who are English or Spanish literate (with interpreter)
Birthdate between 3/1/2023 and 1/1/2011
One biological parent willing to participate
Enrolled in NSR-II
Fulfilling all NSR-II eligibility criteria and evaluated at an NSR center for neonatal seizures or enrolled in NSR-RISE
Exclusion Criteria:
Risk for adverse outcome independent of seizures and underlying brain injury (including but not limited to inborn errors of metabolism, fetal infection, brain malformation)
Transient cause for seizures (e.g., hypoglycemia without brain injury, hyponatremia, hypocalcemia)
Neonatal-onset epilepsy syndromes
Deceased
Gender
All
Min Age
N/A
Max Age
N/A
Download Date
March 7, 2024
Principal Investigator
This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.
Primary Contact Information
jessica.landers@childrens.harvard.edu
This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: