Recruiting

Genomic Sequencing

Sponsor:

Baylor College of Medicine

Code:

NCT06762795

Conditions

Hypoxic Ischemic Encephalopathy of Newborn

Hypoxic Ischemic Encephalopathy

Hypoxic Ischemic Encephalopathy (HIE)

Eligibility Criteria

Sex: All

Age: 0 - 1

Healthy Volunteers: Not accepted

Interventions

Genome sequencing

Study Details

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)

Study ID

NCT06762795

Start date

May 15, 2025

Status verified date

Sep, 2025

Completion date

Jun 30, 2027

Anticipated

Primary completion date

Mar 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 1

Healthy Volunteers: Not accepted

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 Design

Enrollment

25 participants

Anticipated

Intervention Model

Single group

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

experimental: Perinatal HIE

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.

Interventions

Genome sequencing

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

Primary outcome measure

  • Diagnostic yield [ Time Frame: 18 months ]

Central Contacts and Locations

Central contacts

Christian Parobek, MD, PhD

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

Seema Lalani, MD

7137988921seemal@bcm.edu

Locations

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Christian Parobek, MD, PhD

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

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

More Information

Sponsor

Baylor College of Medicine

Last update posted

Oct 1, 2025

Last verified

Sep, 2025

Keywords

  • Hypoxic-ischemic encephalopathy
  • Genetic testing
  • Genome sequencing

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2025-10-01.