The HIEnome Study: Genome Sequencing for Perinatal HIE

Status: Recruiting
Location: See all (2) locations...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 1
Healthy Volunteers: f
View:

• 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

Locations
United States
Texas
Texas Children's Hospital
RECRUITING
Houston
Texas Children's Hospital
RECRUITING
Houston
Contact Information
Primary
Christian Parobek, MD, PhD
christian.parobek@bcm.edu
828-713-9962
Backup
Seema Lalani, MD
seemal@bcm.edu
7137988921
Time Frame
Start Date: 2025-05-15
Estimated Completion Date: 2027-06-30
Participants
Target number of participants: 25
Treatments
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.
Related Therapeutic Areas
Sponsors
Leads: Baylor College of Medicine

This content was sourced from clinicaltrials.gov