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

Trial Summary

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.

How does genome sequencing differ from other treatments for hypoxic-ischemic encephalopathy?

Genome sequencing is unique because it helps identify genetic factors that may contribute to hypoxic-ischemic encephalopathy, allowing for more personalized treatment plans. Unlike standard treatments like therapeutic hypothermia, which focus on managing symptoms, genome sequencing aims to uncover underlying genetic causes that could influence the condition's development and outcomes. ^{1 2 3 4 5}

What is the purpose of this trial?

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.

Eligibility Criteria

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.

My baby was born at or after 35 weeks of pregnancy.

Exclusion Criteria

My family agrees to let me participate in the trial.

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

Timeline

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

Treatment Details

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.

Participant Groups

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+

References

1. United States pubmed.ncbi.nlm.nih.gov

Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series. [2023]

2. United States pubmed.ncbi.nlm.nih.gov

The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP). [2023]

3. United States pubmed.ncbi.nlm.nih.gov

Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study. [2023]

4. United States pubmed.ncbi.nlm.nih.gov

Effect of depth and duration of cooling on deaths in the NICU among neonates with hypoxic ischemic encephalopathy: a randomized clinical trial. [2022]

5. United States pubmed.ncbi.nlm.nih.gov

Up-Regulation of Nfat5 mRNA and Fzd4 mRNA as a Marker of Poor Outcome in Neonatal Hypoxic-Ischemic Encephalopathy. [2021]