Genetic Inclusion by Virtual Evaluation

NCT ID: NCT05318222

Last Updated: 2025-01-30

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 200 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-06-01
• Study Completion Date: 2027-01-31

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.

Detailed Description

Inadequate access to genetics evaluation and genomic testing in the Hispanic minorities living along the Texas-Mexico has marginalized the most vulnerable pediatric group. In this study, we will (1) implement a virtual web-based service, called Consultagene for simplifying patient pathways and deliver virtual genetics evaluation in Rio Grande Valley (RGV) (2) provide rapid genetic diagnoses through whole genome sequencing and interpretation of diagnostic studies for medical decision-making and improving health outcomes for the minorities, and (3) build genomic competency of front-line healthcare providers through education and machine learning to expedite referral of pediatric patients with suspected rare diseases for shortening diagnostic odyssey.

Conditions

Birth Defects; Multiple Congenital Anomaly; Neurodevelopmental Disorders

Study Design

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

Study Groups

WGS arm

All 200 patients recruited will undergo WGS

Group Type: OTHER

Whole genome sequencing (WGS)

Intervention Type: DIAGNOSTIC_TEST

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

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

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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

• Minimum Eligible Age: 1 Day
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Baylor College of Medicine

OTHER

Sponsor Role: lead

Responsible Party

Seema Lalani

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Seema Lalani

Role: PRINCIPAL_INVESTIGATOR

Baylor College of Medicine

Locations

University of Texas Rio Grande Valley

Edinburg, Texas, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Seema Lalani, MD

Role: CONTACT

seemal@bcm.edu

832-822-4280

Brendan Lee, MD; PhD

Role: CONTACT

blee@bcm.edu

832-822-4280

Facility Contacts

Lori Berry, MD

Role: primary

lori.berry@utrgv.edu

Other Identifiers

H-50430

Identifier Type: -

Identifier Source: org_study_id