The HIEnome Study: Genome Sequencing for Perinatal HIE

Not Applicable

Not yet recruiting

• Conditions: Hypoxic Ischemic Encephalopathy of Newborn; Hypoxic Ischemic Encephalopathy; Hypoxic Ischemic Encephalopathy (HIE)

• Registration Number: NCT06762795
• Lead Sponsor: Baylor College of Medicine

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2024-12
• Study First Submitted: 2024-12-20
• Study First Submitted QC: 2025-01-06
• Last Update Submitted: 2025-01-06
• Study First Posted: 2025-01-08
• Last Update Posted: 2025-01-08
• Study Start: 2025-01-15
• Primary Completion: 2026-03-31
• Study Completion: 2026-06-30

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 25

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

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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)

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Diagnostic yield	18 months	The primary outcome will be the number of cases with a pathogenic or likely-pathogenic variant associated with encephalopathy. This will further be stratified by the presence or absence of a perinatal hypoxic insult or sentinel event.

Secondary Outcome Measures

Name	Time	Method
Genome versus exome sequencing	18 months	A secondary outcome will be the incremental improvement in genome sequencing versus simulated exome testing. Diagnostic variants will be classified by their genomic location: exonic, intronic, or deep intronic. The rate of diagnostic findings in genomic locations that would be assayed by exome sequencing will be compared to the overall diagnostic rate (including variants in intronic regions that would not be detected on exome sequencing) to determine the incremental diagnostic benefit of genome sequencing over exome sequencing in this population.
Indeterminate results	18 months	A secondary outcome will be the identification rate of non-diagnostic / indeterminate results in genes linked to conditions with an overlapping neuromuscular or neurodevelopmental phenotype.

Trial Locations

Locations (1)

Texas Children's Hospital; 🇺🇸 Houston, Texas, United States