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The HIEnome Study: Genome Sequencing for Perinatal HIE

The HIEnome Study: Genome Sequencing for Perinatal HIE

Recruiting
1 years and younger
All
Phase N/A
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Overview

Perinatal hypoxic-ischemic encephalopathy is a rare severe condition in which neonates present with encephalopathy and a clinical history suggestive of prenatal or perinatal hypoxic-ischemic injury. Emerging evidence suggests that genetic conditions are frequently identified in cases of perinatal HIE; however, it is unclear which neonates with this diagnosis warrant genetic testing. This study will offer clinical genome sequencing to neonates with HIE who are undergoing total body cooling (therapeutic hypothermia) and their parents.

Eligibility

Inclusion Criteria:

  • Delivery ≥35w0d gestation
  • Diagnosed with moderate or severe HIE, or HIE with seizures
  • Undergoing total body cooling / therapeutic hypothermia
  • Able to provide blood or buccal samples during birth hospitalization
  • Admitted to Texas Children's Hospital Main, West, or Woodlands NICU

Exclusion Criteria:

  • Parents/family not willing to allow participation
  • Inability to collect sufficient neonatal blood samples (in some circumstances, a buccal swab may be used as backup)

Study details
    Hypoxic Ischemic Encephalopathy of Newborn
    Hypoxic Ischemic Encephalopathy
    Hypoxic Ischemic Encephalopathy (HIE)

NCT06762795

Baylor College of Medicine

15 October 2025

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