Recruiting

Genetic Testing

Sponsor:

Baylor College of Medicine

Code:

NCT07102966

Conditions

Rare Diseases

Eligibility Criteria

Sex: All

Age: 0

Healthy Volunteers: Accepted

Interventions

Rapid whole genome sequencing

Study Details

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.

Conditions

Rare Diseases

Study ID

NCT07102966

Start date

Oct 28, 2025

Status verified date

Jan, 2026

Completion date

Jul 31, 2029

Anticipated

Primary completion date

Mar 31, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

410 participants

Anticipated

Intervention Model

Single group

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

experimental: MAGNET study patients

Patients receiving rapid whole genome sequencing

Interventions

Rapid whole genome sequencing

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

Primary outcome measure

  • Effectiveness of Consultagene [ Time Frame: From enrollment to the end of treatment-4 years ]

Central Contacts and Locations

Central contacts

Seema R Lalani, MD

281-224-0600seemal@bcm.edu

Stacey Pereira, PhD

spereira@bcm.edu

Locations

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Seema Lalani, MD

281-224-0600seemal@bcm.edu

More Information

Sponsor

Baylor College of Medicine

Last update posted

Jan 27, 2026

Last verified

Jan, 2026

Keywords

  • Rapid whole genome sequencing, newborns, Texas

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2026-01-27.