GIVE: Genetic Inclusion by Virtual Evaluation

Sponsor

Baylor College of Medicine (Other)

Overall Status

Recruiting

CT.gov ID

NCT05318222

Collaborator

(none)

100

Enrollment

Location

Arm

Anticipated Duration (Months)

4.2

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Birth Defects Multiple Congenital Anomaly Neurodevelopmental Disorders	Diagnostic Test: Whole genome sequencing (WGS)	N/A

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.

Study Design

Study Type:

Interventional

Anticipated Enrollment :

100 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Diagnostic

Official Title:

Virtual Platforms for Genetics Evaluation in the Medically Underserved

Actual Study Start Date :

Feb 1, 2022

Anticipated Primary Completion Date :

Jan 31, 2024

Anticipated Study Completion Date :

Jan 31, 2024

Arms and Interventions

Arm	Intervention/Treatment
Other: WGS arm All 100 patients recruited will undergo WGS	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

Arm

Intervention/Treatment

Other: WGS arm

All 100 patients recruited will undergo WGS

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

Outcome Measures

Primary Outcome Measures

Time to diagnosis [12 months]

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Days to 18 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

Pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley in Texas

Exclusion Criteria:

Children with known genetic diseases

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Texas Rio Grande Valley	Edinburg	Texas	United States	78539

Sponsors and Collaborators

Baylor College of Medicine

Investigators

Principal Investigator: Seema Lalani, Baylor College of Medicine

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Seema Lalani, Professor, Baylor College of Medicine

ClinicalTrials.gov Identifier:

NCT05318222

Other Study ID Numbers:

H-50430

First Posted:

Apr 8, 2022

Last Update Posted:

Apr 15, 2022

Last Verified:

Apr 1, 2022

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Congenital Abnormalities

Abnormalities, Multiple

Neurodevelopmental Disorders

Study Results

No Results Posted as of Apr 15, 2022