Genome sequencing for newborns with perinatal hypoxic‑ischemic encephalopathy
The HIEnome Study: Genome Sequencing for Perinatal HIE
This program will try genome sequencing for newborns with moderate-to-severe hypoxic‑ischemic encephalopathy who are receiving therapeutic cooling, using parent samples to help interpret results.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 25 (estimated) |
| Ages | 0 Days to 1 Year |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 2 sites (Houston, Texas and 1 other locations) |
| Trial ID | NCT06762795 on ClinicalTrials.gov |
What this trial studies
The HIEnome protocol offers clinical whole-genome sequencing to neonates diagnosed with moderate or severe perinatal HIE (including HIE with seizures) who are undergoing total body cooling, and to their parents for trio analysis. Eligible infants are ≥35 weeks' gestation, admitted to Texas Children's Hospital NICUs, and able to provide blood or buccal samples during the birth hospitalization. Sequencing and interpretation are performed as a clinical service to identify genetic conditions that may explain the encephalopathy or influence care. The project aims to clarify which neonates with perinatal HIE carry genetic diagnoses and to improve diagnostic pathways and counseling.
Who should consider this trial
Good fit: Ideal candidates are newborns ≥35 weeks' gestation with moderate or severe HIE (or HIE with seizures) who are undergoing therapeutic hypothermia in one of Texas Children's Hospital NICUs and can provide neonatal and parental samples.
Not a fit: Babies with mild HIE, those born before 35 weeks, infants not receiving therapeutic cooling, patients admitted outside Texas Children's Hospital, or cases where sufficient samples cannot be obtained are less likely to benefit.
Why it matters
Potential benefit: If successful, this could identify underlying genetic causes that improve prognosis, guide medical care, and support family counseling.
How similar studies have performed: Previous research has begun to show that genetic diagnoses are often found in neonatal encephalopathy cases, but the approach is still emerging and not yet standardized.
Eligibility criteria
Show full inclusion / exclusion criteria
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)
Where this trial is running
Houston, Texas and 1 other locations
- Texas Children's Hospital — Houston, Texas, United States (Recruiting)
- Texas Children's Hospital — Houston, Texas, United States (Recruiting)
Study contacts
- Study coordinator: Christian Parobek, MD, PhD
- Email: christian.parobek@bcm.edu
- Phone: 828-713-9962
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.