Recruiting

Genetic Evaluation

Sponsor:

Baylor College of Medicine

Code:

NCT05318222

Conditions

Birth Defects

Multiple Congenital Anomaly

Neurodevelopmental Disorders

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Accepted

Interventions

Whole genome sequencing (WGS)

Study Details

Brief summary:

This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving genetic health of less resourced children with rare disorders living along the Texas-Mexico border.

Conditions

Birth Defects

Multiple Congenital Anomaly

Neurodevelopmental Disorders

Study ID

NCT05318222

Start date

Jun 1, 2022

Status verified date

Jan, 2025

Completion date

Jan 31, 2027

Anticipated

Primary completion date

Jan 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Accepted

Inclusion Criteria:

Pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley and El Paso in Texas

Exclusion Criteria:

Children with known genetic diseases

Study Design

Enrollment

200 participants

Anticipated

Intervention Model

Single group

Primary purpose

Diagnostic

Interventions and Outcome Measures

Arms

other: WGS arm

All 200 patients recruited will undergo WGS

Interventions

Whole genome sequencing (WGS)

WGS will identify copy number variations (CNVs), single nucleotide variants (SNVs), as well as triplet repeat disorders in children with rare diseases

Primary outcome measure

  • Time to diagnosis [ Time Frame: 12 months ]

Central Contacts and Locations

Central contacts

Seema Lalani, MD

832-822-4280seemal@bcm.edu

Brendan Lee, MD; PhD

832-822-4280blee@bcm.edu

Locations

University of Texas Rio Grande Valley

Recruiting

Edinburg, Texas, United States, 78539

Contacts

Lori Berry, MD

lori.berry@utrgv.edu

More Information

Sponsor

Baylor College of Medicine

Last update posted

Jan 30, 2025

Last verified

Jan, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2025-01-30.