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

NCT ID: NCT07102966

Last Updated: 2026-01-27

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 410 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-10-28
• Study Completion Date: 2029-07-31

Brief 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.

Detailed 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.

Conditions

Rare Diseases

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

MAGNET study patients

Patients receiving rapid whole genome sequencing

Group Type: EXPERIMENTAL

Rapid whole genome sequencing

Intervention Type: GENETIC

All consented patients will receive a virtual genetic evaluation and rapid whole genome sequencing

Interventions

Rapid whole genome sequencing

All consented patients will receive a virtual genetic evaluation and rapid whole genome sequencing

Intervention Type: GENETIC

Eligibility 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.

• Minimum Eligible Age: 1 Day
• Maximum Eligible Age: 90 Days
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role: collaborator

Baylor College of Medicine

OTHER

Sponsor Role: lead

Responsible Party

Seema Lalani

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Brendan Lee, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Baylor College of Medicine

Locations

Baylor College of Medicine

Houston, Texas, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Seema R Lalani, MD

Role: CONTACT

seemal@bcm.edu

281-224-0600

Stacey Pereira, PhD

Role: CONTACT

spereira@bcm.edu

Facility Contacts

Seema Lalani, MD

Role: primary

seemal@bcm.edu

281-224-0600

References

Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Garcia N, Berry L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas. J Neurodev Disord. 2024 Sep 9;16(1):52. doi: 10.1186/s11689-024-09560-x.

Reference Type: BACKGROUND

PMID: 39251895 (View on PubMed)

Provided Documents

Document Type: Study Protocol

View Document

Other Identifiers

1R01HG013428-01A1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

H-56296

Identifier Type: -

Identifier Source: org_study_id