NSR-GENE: Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy

Sponsor

University of California, San Francisco (Other)

Overall Status

Recruiting

CT.gov ID

NCT05361070

Collaborator

National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

300

Enrollment

Locations

Anticipated Duration (Months)

37.5

Patients Per Site

0.6

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Neonatal Seizure Hypoxic-Ischemic Encephalopathy Stroke Intracranial Hemorrhage Epilepsy Gene Abnormality

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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

300 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy (NSR-GENE)

Actual Study Start Date :

Mar 1, 2022

Anticipated Primary Completion Date :

Feb 28, 2027

Anticipated Study Completion Date :

Feb 28, 2027

Outcome Measures

Primary Outcome Measures

Number of participants with post-neonatal epilepsy [5 years of age]
The presence or absence of a post-neonatal epilepsy diagnosis at age 5 in children with a prior history of acute symptomatic neonatal seizures will be determined by telephone interview with the parent and corroborated by medical record review

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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)
Age five years or older during the study period
Both biological parents 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of California, San Francisco	San Francisco	California	United States	94158
2	Children's National Medical Center	Washington	District of Columbia	United States	20010
3	Massachusetts General Hospital	Boston	Massachusetts	United States	02114
4	Boston Children's Hospital	Boston	Massachusetts	United States	02115
5	University of Michigan	Ann Arbor	Michigan	United States	48109
6	Duke University	Durham	North Carolina	United States	27705
7	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio	United States	45229
8	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104