The HIEnome Study: Genome Sequencing for Perinatal HIE

Part of paid clinical trials in Houston, Texas.

Sponsor
Baylor College of Medicine
Study ID
NCT06762795
Status
Recruiting
Apply to this trial

Conditions

  • Hypoxic Ischemic Encephalopathy
  • Hypoxic Ischemic Encephalopathy (HIE)
  • Hypoxic Ischemic Encephalopathy of Newborn

Eligibility Criteria

Sex
ALL
Age
0 Days - 1 Year
Healthy Volunteers
Not accepted

Interventions

  • Genome sequencing — GENETIC
    Neonates enrolled in this study will undergo genome sequencing with parental controls as applicable.

Study Details

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.

Key Dates

Start date
May 15, 2025
Status verified
Sep 2025
Primary completion
Mar 31, 2027
Completion
Jun 30, 2027

Study Design

Enrollment
25 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC

Arms

  • Experimental: Perinatal HIE
    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.

Primary Outcome Measure

Diagnostic yield [ Time Frame: 18 months ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
Texas Children's HospitalHoustonTexas77030
Christian Parobek, MD, PhD
[email protected]
828-713-9962
Texas Children's HospitalHoustonTexas77030-

Find similar trials in Houston, TX

By research site
Texas Children's Hospital· Houston, TX

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