Hypoxic Ischemic Encephalopathy of NewbornNCT06762795
The HIEnome Study: Genome Sequencing for Perinatal HIE
A study testing Genome sequencing in people with Hypoxic Ischemic Encephalopathy of Newborn and Hypoxic Ischemic Encephalopathy, run by Baylor College of Medicine at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 days to 1 year
- Conditions the study is for
- Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE)
- What is being tested?
- Genome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 25 participants
- Where
- 2 sitesUnited States
- Study dates
- 15 May 2025to 30 Jun 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 days to 1 year
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- 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)
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Texas Children's Hospital
Houston, Texas, 77030
Christian Parobek, MD, PhD, 828-713-9962, christian.parobek@bcm.edu
- Recruiting
Texas Children's Hospital
Houston, Texas, 77030
About this study
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.
- Conditions
- Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE)
- Being tested
- Genome sequencing
- Keywords
- Hypoxic-ischemic encephalopathy, Genetic testing, Genome sequencing
- Medical subject headings
- Hypoxia-Ischemia, Brain
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genome sequencingGenetic
Neonates enrolled in this study will undergo genome sequencing with parental controls as applicable.
| Study group | Role | What they receive |
|---|---|---|
| Perinatal HIE | Experimental | 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. Receives: Genetic: Genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic yield
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.
Measured: 18 months
Secondary outcomes (2)
Genome versus exome sequencing
A secondary outcome will be the incremental improvement in genome sequencing versus simulated exome testing. Diagnostic variants will be classified by their genomic location: exonic, intronic, or deep intronic. The rate of diagnostic findings in genomic locations that would be assayed by exome sequencing will be compared to the overall diagnostic rate (including variants in intronic regions that would not be detected on exome sequencing) to determine the incremental diagnostic benefit of genome sequencing over exome sequencing in this population.
Measured: 18 months
Indeterminate results
A secondary outcome will be the identification rate of non-diagnostic / indeterminate results in genes linked to conditions with an overlapping neuromuscular or neurodevelopmental phenotype.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2025
- Study start15 May 2025
- Primary completion31 Mar 2027 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypoxic Ischemic Encephalopathy of NewbornStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Seema Lalani, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06762795
- Sponsor's protocol ID
- H-54168
- Status last verified
- Sep 2026
- First submitted
- 20 Dec 2024
- Last updated
- 1 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The HIEnome Study: Genome Sequencing for Perinatal HIE
- ClinicalTrials.gov ID
- NCT06762795
- Acronym / sponsor ID
- H-54168
- Conditions
- Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE)
- Keywords
- Hypoxic-ischemic encephalopathy, Genetic testing, Genome sequencing
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Study start
- 15 May 2025 (actual)
- Primary completion
- 31 Mar 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 8 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Perinatal HIE | Experimental | Genetic: Genome sequencingNewborns 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. |
Who may qualify
- Ages
- 0 days to 1 year
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (2 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genome sequencingNeonates enrolled in this study will undergo genome sequencing with parental controls as applicable. | Genetic | Perinatal HIE |
Primary outcome
Diagnostic yield
Time frame: 18 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.
2 secondary outcomes
Genome versus exome sequencing
Time frame: 18 months
Indeterminate results
Time frame: 18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genome sequencing in people with Hypoxic Ischemic Encephalopathy of Newborn and Hypoxic Ischemic Encephalopathy, run by Baylor College of Medicine at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Christian Parobek, MD, PhD (828-713-9962, christian.parobek@bcm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic yield (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2026.