The HIEnome Study: Genome Sequencing for Perinatal HIE

NCT06762795 | Recruiting

• 1 other identifier: H-54168
• Study Type: interventional
• Target: 25
• Locations: 1 country
• Sites: 2

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.

Conditions

Hypoxic Ischemic Encephalopathy of Newborn; Hypoxic Ischemic Encephalopathy; Hypoxic Ischemic Encephalopathy (HIE)

Keywords

Hypoxic-ischemic encephalopathy; Genetic testing; Genome sequencing

Outcome Measures

Primary Outcomes (1)

• Diagnostic yield

  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.

  18 months

Secondary Outcomes (2)

• Genome versus exome sequencing

  18 months

• Indeterminate results

  18 months

Study Arms (1)

Perinatal HIE

EXPERIMENTAL

Newborns diagnosed with moderate or severe perinatal hypoxic-ischemic encephalopathy (HIE) who are undergoing therapeutic hypothermia will receive genome sequencing to identify co-morbid genetic conditions. Participants' genetic data will be analyzed for copy number variations (CNVs), single nucleotide variants (SNVs), and triplet repeat disorders per ACMG reporting standards.

Genetic: Genome sequencing

Interventions

Genome sequencing GENETIC

Neonates enrolled in this study will undergo genome sequencing with parental controls as applicable.

Perinatal HIE

Eligibility Criteria

• Age: 0 Days - 1 Year
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Baylor College of Medicine: lead

Study Sites (2)

Texas Children's Hospital

Houston, Texas, 77030, United States

RECRUITING

Texas Children's Hospital

Houston, Texas, 77030, United States

RECRUITING

MeSH Terms

Conditions

Hypoxia-Ischemia, Brain

Condition Hierarchy (Ancestors)

Brain Ischemia; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hypoxia, Brain; Vascular Diseases; Cardiovascular Diseases; Hypoxia; Signs and Symptoms, Respiratory; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Christian Parobek, MD, PhD

CONTACT

828-713-9962; christian.parobek@bcm.edu

Seema Lalani, MD

CONTACT

7137988921; seemal@bcm.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 20, 2024
• First Posted: January 8, 2025
• Study Start: May 15, 2025
• Primary Completion (Estimated): March 31, 2027
• Study Completion (Estimated): June 30, 2027
• Last Updated: October 1, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)