The HIEnome Study: Genome Sequencing for Perinatal HIE

NCT ID: NCT06762795

Last Updated: 2025-10-01

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

25 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-05-15

Study Completion Date

2027-06-30

Brief Summary

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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

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Conditions

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

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

Genome sequencing

Intervention Type GENETIC

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

Interventions

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Genome sequencing

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

Intervention Type GENETIC

Eligibility Criteria

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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)
Minimum Eligible Age

0 Days

Maximum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Baylor College of Medicine

OTHER

Sponsor Role lead

Responsible Party

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Seema Lalani

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Texas Children's Hospital

Houston, Texas, United States

Site Status RECRUITING

Texas Children's Hospital

Houston, Texas, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Christian Parobek, MD, PhD

Role: CONTACT

828-713-9962

Seema Lalani, MD

Role: CONTACT

7137988921

Facility Contacts

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Christian Parobek, MD, PhD

Role: primary

828-713-9962

Other Identifiers

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H-54168

Identifier Type: -

Identifier Source: org_study_id

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