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

Neurodevelopmental Disorders Birth Defects Multiple Congenital Anomaly

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

Plain Language Summary

Simplified for easier understanding

This study is providing access to genetic evaluation through telehealth (virtual visits) for children with undiagnosed rare genetic diseases who live in medically underserved areas of Texas — specifically the Rio Grande Valley and El Paso. The goal is to ensure that children in these communities have access to genetic specialists who can help diagnose rare conditions. You may be eligible if... - Your child is between newborn (1 day old) and 18 years old - Your child has a rare genetic disease that has not yet been diagnosed - Your child lives in the Rio Grande Valley or El Paso area of Texas You may NOT be eligible if... - Your child already has a known genetic diagnosis Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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