The HIEnome Study: Genome Sequencing for Perinatal HIE

Baylor College of Medicine

Status: Enrolling

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

Treatments: Genetic: Genome sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT06762795

H-54168

Details and patient eligibility

About

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.

Enrollment: 25 estimated patients

Sex: All

Ages: Under 1 year old

Volunteers: No Healthy Volunteers

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)

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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25 participants in 1 patient group

Perinatal HIE

Experimental group

Description:

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.

Treatment:

Genetic: Genome sequencing