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NCT Number: NCT05318222

Genetic Inclusion by Virtual Evaluation

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.

Recruiting

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Key information

Conditions

Birth Defects Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Mental Disorders Multiple Congenital Anomaly Neurodevelopmental Disorders

Age range

1 day–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Texas Rio Grande Valley

Edinburg, Texas, 78539, United States

Location status: Recruiting

Location contact

Lori Berry, MD

CONTACT

[email protected]

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Whole genome sequencing (WGS)

Diagnostic Test

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

Primary outcomes

  1. Time to diagnosis

    Time frame: 12 months

Study contacts

Contact information is provided by the study sponsor or research team.

Brendan Lee, MD; PhD

CONTACT

[email protected]

832-822-4280

Seema Lalani, MD

CONTACT

[email protected]

832-822-4280

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Registry information

Official study title

Virtual Platforms for Genetics Evaluation in the Medically Underserved

Acronym: GIVE

Important dates

Study start
2022
Primary completion
2027
Study completion
2027
First posted
Apr 8, 2022
Registry last updated
Jan 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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