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Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Baylor College of Medicine · with National Human Genome Research Institute (NHGRI) · NCT07102966

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 0 mo–2 mo · All sexes
Healthy volunteers
Accepted
Study type
Interventional · Not applicable
Target enrollment
410
US sites recruiting
1
Study start
October 28, 2025
Record last updated
October 1, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.

Being studied: Rapid whole genome sequencing

Conditions: Rare Diseases

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

  • Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders.

Exclusion Criteria

  • (1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip/palate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.

Recruiting US locations

  • Baylor College of Medicine

    Houston, TX 77030

    Site contact: Seema Lalani, MD · 281-224-0600 · seemal@bcm.edu

Study contacts (from the official record)

  • Seema R Lalani, MD · 281-224-0600 · seemal@bcm.edu
  • Stacey Pereira, PhD · spereira@bcm.edu
All healthy volunteers studies in Texas →
Genetic Study to Determine the Cause of Birth Defects in Newborns… (NCT07102966) | Bored Studies