Summary

Location
at San Francisco, California and other locations
Dates
study started
completion around
Principal Investigator
by Hannah C Glass, MDCM, MAS
Headshot of Hannah C Glass
Hannah C Glass

Description

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.

Official Title

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

Details

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.

Keywords

Neonatal Seizure, Hypoxic-Ischemic Encephalopathy, Stroke, Intracranial Hemorrhage, Epilepsy, Gene Abnormality, Seizures, Brain Diseases, Brain Ischemia, Intracranial Hemorrhages, Brain Hypoxia-Ischemia, Hemorrhage

Eligibility

You can join if…

  • 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

You CAN'T join if...

  • 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

Locations

  • UCSF accepting new patients
    San Francisco California 94158 United States
  • Cincinnati Children's Hospital Medical Center accepting new patients
    Cincinnati Ohio 45229 United States

Lead Scientist at UCSF

  • Hannah C Glass, MDCM, MAS
    Dr. Hannah Glass is a pediatric neurologist, founding co-director of the Neurointensive Care Nursery (NICN), and Director of Neonatal Critical Care Services at the UCSF Benioff Children's Hospital. She is also the program director of the Neonatal Neurology Fellowship Program.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT05361070
Study Type
Observational [Patient Registry]
Participants
Expecting 300 study participants
Last Updated