Genetic Inclusion by Virtual Evaluation

Neurodevelopmental Disorders Clinical Trial

— GIVE  

Official title:

Virtual Platforms for Genetics Evaluation in the Medically Underserved

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05318222
• Other study ID #: H-50430
• Status: Completed
• Phase: N/A
• Start date: June 1, 2022
• Est. completion date: January 31, 2024

Study information

• Verified date: April 2024
• Source: Baylor College of Medicine
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: January 31, 2024
• Est. primary completion date: January 31, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 1 Day to 18 Years

Eligibility

Inclusion Criteria:

Pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley in Texas Exclusion Criteria: Children with known genetic diseases

Related Conditions & MeSH terms

• Abnormalities, Multiple
• Birth Defects
• Congenital Abnormalities
• Multiple Congenital Anomaly
• Neurodevelopmental Disorders

Intervention

Diagnostic Test:
• 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

Locations

Country	Name	City	State
United States	University of Texas Rio Grande Valley	Edinburg	Texas

Sponsors (1)

Lead Sponsor	Collaborator
Baylor College of Medicine

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Time to diagnosis		12 months