Genome Sequencing for Hypoxic-Ischemic Encephalopathy

Overseen By Seema Lalani, MD

Age: < 18

Sex: Any

Trial Phase: Academic

Sponsor: Baylor College of Medicine

Disqualifiers: Insufficient blood samples, Parental refusal

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

Duration: 18 months

25 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to identify which newborns with hypoxic-ischemic encephalopathy (HIE), a serious condition caused by lack of oxygen around birth, might benefit from genetic testing. Researchers will use genome sequencing, a type of genetic testing, to detect genetic conditions in babies already receiving cooling therapy, which helps protect the brain. Babies with moderate to severe HIE or HIE with seizures, treated at Texas Children's Hospital, are invited to participate. The trial involves collecting blood or cheek swab samples from the newborns and their parents for genetic analysis. As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research that could improve future care for newborns with HIE.

Do I need to stop my current medications for this trial?

The trial information does not specify whether participants need to stop taking their current medications.

What prior data suggests that genome sequencing is safe for neonates with HIE?

Research has shown that genome sequencing has been safely used in newborns with conditions like hypoxic-ischemic encephalopathy (HIE). One study involving 24 newborns with HIE found that genome sequencing helped identify genetic disorders. The study reported no major safety issues, indicating that the process is generally well-tolerated by newborns.

Genome sequencing examines a person's genetic information. It is non-invasive, requiring only a simple blood sample, and does not involve surgery or other complex procedures. While primarily used for gathering information rather than treating a condition, the process generally carries minimal risk.

In summary, past studies indicate that genome sequencing in newborns with HIE is safe and usually does not cause any problems. It aids doctors in understanding the genetic factors that might affect a baby's health. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about using genome sequencing for hypoxic-ischemic encephalopathy (HIE) because it offers a way to uncover genetic conditions that might be affecting newborns alongside HIE. Unlike traditional treatments that focus on managing symptoms through therapeutic hypothermia, genome sequencing dives into the genetic blueprint of the newborn. This approach can identify specific genetic variants and disorders, potentially leading to more personalized and effective treatments. By understanding the genetic factors at play, doctors can tailor their approach, offering a new level of precision that current treatments can't provide.

What evidence suggests that genome sequencing is effective for identifying genetic conditions in neonates with perinatal HIE?

Research has shown that examining a newborn's genes can help identify genetic disorders in babies with hypoxic-ischemic encephalopathy (HIE). One study analyzed the genes of 24 newborns with HIE, identifying genetic issues potentially linked to the condition. Other studies suggest that genetics can influence a baby's risk of developing HIE. In this trial, newborns diagnosed with moderate or severe perinatal HIE undergoing therapeutic hypothermia will receive genome sequencing to identify co-morbid genetic conditions. Identifying these genetic differences allows doctors to better understand each baby's situation and adjust treatments accordingly. This method could lead to more personalized and effective care for newborns with HIE. ^{1 2 3 4 5}

Are You a Good Fit for This Trial?

This trial is for newborns with a condition called perinatal hypoxic-ischemic encephalopathy (HIE), which happens when the brain doesn't get enough oxygen around birth. These babies are already getting a treatment called total body cooling and their parents can also participate.

Inclusion Criteria

I have been diagnosed with moderate or severe brain injury, or brain injury with seizures.

I am currently receiving total body cooling treatment.

Able to provide blood or buccal samples during birth hospitalization

Exclusion Criteria

Inability to collect sufficient neonatal blood samples (a buccal swab may be used as backup in some circumstances)

My family agrees to let me participate in the trial.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Newborns with perinatal HIE undergo therapeutic hypothermia and genome sequencing

18 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Genome Sequencing

Trial Overview The study is testing if genome sequencing can help understand genetic factors in newborns with HIE. It aims to see who might benefit from genetic testing by analyzing the DNA of these babies and their parents.

How Is the Trial Designed?

Group I: Perinatal HIE Experimental Treatment 1 Intervention

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.

Who Is Running the Clinical Trial?

Baylor College of Medicine

Lead Sponsor

Trials

1,044

Recruited

6,031,000+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11147704/

Clinical exome sequencing uncovers genetic disorders in ... This study presents clinical and molecular data for 24 neonates with perinatal hypoxic-ischemic encephalopathy who underwent exome or genome sequencing.

2. hopeforhie.org hopeforhie.org/understanding-hie-and-genetics-key-takeaways/

Understanding HIE and Genetics: Key Takeaways There, researchers analyzed exome sequencing data from 1,500 children with cerebral palsy, categorizing them based on whether they experienced a ...

3. jamanetwork.com jamanetwork.com/journals/jamanetworkopen/fullarticle/2814632

Whole-Blood Gene Expression Profile After Hypoxic ... This case-control study compares the genome expression at birth and associated outcome in neonates with hypoxic-ischemic encephalopathy in a ...

4. sciencedirect.com sciencedirect.com/science/article/pii/S0925443925000778

A possible genetic predisposition to suspected hypoxic- ... Several studies have explored whether there might be a genetic component in hypoxic-ischaemic encephalopathy (HIE) that influences susceptibility to or ...

5. nature.com nature.com/articles/s41390-025-03986-2

Neonatal encephalopathy and hypoxic-ischemic ... Finally, genetic testing using whole exome sequencing (WES) or whole genome sequencing also plays an important role in fetal ventriculomegaly.