NCT07102966

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
410

participants targeted

Target at P75+ for not_applicable

Timeline
40mo left

Started Oct 2025

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress14%
Oct 2025Jul 2029

First Submitted

Initial submission to the registry

July 29, 2025

Completed
7 days until next milestone

First Posted

Study publicly available on registry

August 5, 2025

Completed
3 months until next milestone

Study Start

First participant enrolled

October 28, 2025

Completed
3.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 31, 2029

Expected
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

July 31, 2029

Last Updated

January 27, 2026

Status Verified

January 1, 2026

Enrollment Period

3.4 years

First QC Date

July 29, 2025

Last Update Submit

January 26, 2026

Conditions

Rare Diseases

Keywords

Rapid whole genome sequencing, newborns, Texas

Outcome Measures

Primary Outcomes (1)

  • Effectiveness of Consultagene

    The primary outcome will be effectiveness of Consultagene, defined as difference in diagnostic yield compared to usual care.

    From enrollment to the end of treatment-4 years

Study Arms (1)

MAGNET study patients

EXPERIMENTAL

Patients receiving rapid whole genome sequencing

Genetic: Rapid whole genome sequencing

Interventions

Rapid whole genome sequencingGENETIC

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

MAGNET study patients

Eligibility Criteria

Age1 Day - 90 Days
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)

You may qualify if:

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

You may not qualify if:

  • (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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Related Publications (1)

  • 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.

    PMID: 39251895BACKGROUND

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Brendan Lee, MD, PhD

    Baylor College of Medicine

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Seema R Lalani, MD

CONTACT

281-224-0600seemal@bcm.edu

Stacey Pereira, PhD

CONTACT

spereira@bcm.edu

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

July 29, 2025

First Posted

August 5, 2025

Study Start

October 28, 2025

Primary Completion (Estimated)

March 31, 2029

Study Completion (Estimated)

July 31, 2029

Last Updated

January 27, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will share
Shared Documents
STUDY PROTOCOL, ICF
Time Frame
Unending (Beginning 1 year after publication with no end date)

Locations

US(1)