RecruitingNot ApplicableNCT05318222

Genetic Inclusion by Virtual Evaluation

Virtual Platforms for Genetics Evaluation in the Medically Underserved


Sponsor

Baylor College of Medicine

Enrollment

200 participants

Start Date

Jun 1, 2022

Study Type

INTERVENTIONAL

Conditions

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.


Eligibility

Min Age: 1 DayMax Age: 18 Years

Inclusion Criteria1

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

Exclusion Criteria1

  • Children with known genetic diseases

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Interventions

DIAGNOSTIC_TESTWhole 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


Locations(1)

University of Texas Rio Grande Valley

Edinburg, Texas, United States

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NCT05318222


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