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

Phase

N/A

Condition

Holoprosencephaly

Neuronal Ceroid Lipofuscinoses (Ncl)

Treatment

Rapid whole genome sequencing

Clinical Study ID

NCT07102966

H-56296

1R01HG013428-01A1

Ages 1-90
All Genders
Accepts Healthy Volunteers

Study Summary

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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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

Exclusion

Exclusion Criteria:

(1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating aninborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence ofother 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) VACTERLassociation; and (11) hemodynamically unstable newborns needing transport for higherlevel of care.

Study Design

Rapid whole genome sequencing

October 28, 2025

July 31, 2029

Study Description

The study will use advanced testing such as WGS and RNA sequencing to look for possible diagnoses in infants. Only newborns with an unknown genetic diagnosis and admitted to a NICU in select Texas hospitals will be included. The researchers have executed broad reliance agreements with the participating NICUs in the study. Baylor IRB will serve as the IRB of record for all participating sites. All referrals will be received through Consultagene (www.consultagene.org).

Baylor College of Medicine (BCM) will conduct virtual genetic evaluations using video visits, with help from the local hospital team. Photos and medical records will be reviewed, and blood or buccal swabs will be collected from the infants and parents. Test results will be returned in about a week, and researchers will provide genetic counseling to families through another virtual visit. If needed, additional testing will be done. Families will be connected to support groups, treatment options, and clinical trials if available.

To understand the impact of the study, families will be asked to complete two short surveys; one at the beginning and one after they receive results. Doctors who use Consultagene will also be surveyed and interviewed to learn about their experience and gather feedback for improving the virtual tool.

All data will be kept private and secure. DNA samples collected will be stored at BCM for future research, but without any identifying information. Samples may also be shared with other researchers studying similar health conditions, but only under strict guidelines.

Connect with a study center

Baylor College of Medicine
Houston, Texas 77030
United States
Site Not Available
Baylor College of Medicine
Houston 4699066, Texas 4736286 77030
United States
Active - Recruiting

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