The HIEnome Study: Genome Sequencing for Perinatal HIE
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genome sequencing.
- Who it may be relevant to
- Registry conditions: Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE). Basic parameters: 0 Days — 1 year · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Genetic Genome sequencing
Neonates enrolled in this study will undergo genome sequencing with parental controls as applicable.
Primary outcome measures
- Diagnostic yield [Time frame: 18 months]
Secondary outcome measures (2)
- Genome versus exome sequencing [Time frame: 18 months]
- Indeterminate results [Time frame: 18 months]
Eligibility 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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
United States · 2 centers
- Texas Children's Hospital — Houston
- Texas Children's Hospital — Houston
Identifiers
NCT: NCT06762795 · H-54168