The HIEnome Study: Genome Sequencing for Perinatal HIE
This study, called The HIEnome Study, is looking at babies born with Hypoxic Ischemic Encephalopathy (HIE), a rare and serious condition where the brain doesn't get enough oxygen. Researchers want to see if genetic conditions play a role in HIE. If your baby is diagnosed with moderate or severe HIE, or HIE with seizures, and is undergoing total body cooling (therapeutic hypothermia) at Texas Children's Hospital, they might be able to join. The study involves genome sequencing (looking at your baby's complete set of DNA) and, if applicable, your DNA too. The main goal is to see how often a genetic cause for HIE is found by the time your child is 18 months old. The study is currently unclear on its recruitment status and plans to enroll 25 babies.
- Study design
- This is an interventional study involving 25 participants. It is not specified if it is randomized or blinded.
- What's involved
- Participants will provide blood or buccal (cheek) samples during their hospital stay.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed to measure diagnostic yield at 18 months.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
The HIEnome Study: Genome Sequencing for Perinatal HIE
At a glance
Conditions
Where it's being run
2 sites across 1 statesWho to contact
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Do you actually qualify for this trial?
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Inclusion
Exclusion
What this trial measures
- Diagnostic yield18 months
The primary outcome will be the number of cases with a pathogenic or likely-pathogenic variant associated with encephalopathy. This will further be stratified by the presence or absence of a perinatal hypoxic insult or sentinel event.