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Genetic Inclusion by Virtual Evaluation (GIVE)

Primary Purpose

Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders

Status

Recruiting

Phase

Not Applicable

Locations

United States

Study Type

Interventional

Intervention

Whole genome sequencing (WGS)

About this trial

This is an interventional diagnostic trial for Birth Defects

Eligibility Criteria

1 Day - 18 Years (Child, Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria:

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

Exclusion Criteria:

Children with known genetic diseases

Sites / Locations

University of Texas Rio Grande ValleyRecruiting

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

WGS arm

Arm Description

All 100 patients recruited will undergo WGS

Outcomes

Primary Outcome Measures

Time to diagnosis

Secondary Outcome Measures

Full Information

NCT ID

NCT05318222

First Posted

March 31, 2022

Last Updated

March 17, 2023

Sponsor

Baylor College of Medicine

1. Study Identification

Unique Protocol Identification Number

NCT05318222

Brief Title

Genetic Inclusion by Virtual Evaluation

Acronym

GIVE

Official Title

Virtual Platforms for Genetics Evaluation in the Medically Underserved

Study Type

Interventional

2. Study Status

Record Verification Date

March 2023

Overall Recruitment Status

Recruiting

Study Start Date

June 1, 2022 (Actual)

Primary Completion Date

January 31, 2024 (Anticipated)

Study Completion Date

January 31, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Principal Investigator

Name of the Sponsor

Baylor College of Medicine

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. 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.

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders

7. Study Design

Primary Purpose

Diagnostic

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

100 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

WGS arm

Arm Type

Other

Arm Description

All 100 patients recruited will undergo WGS

Intervention Type

Diagnostic Test

Intervention Name(s)

Whole genome sequencing (WGS)

Intervention Description

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

Primary Outcome Measure Information:

Title

Time to diagnosis

Time Frame

12 months

10. Eligibility

Sex

All

Minimum Age & Unit of Time

1 Day

Maximum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

Eligibility Criteria

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

Central Contact Person:

First Name & Middle Initial & Last Name or Official Title & Degree

Seema Lalani, MD

Phone

832-822-4280

seemal@bcm.edu

First Name & Middle Initial & Last Name or Official Title & Degree

Brendan Lee, MD; PhD

Phone

832-822-4280

blee@bcm.edu

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Seema Lalani

Organizational Affiliation

Baylor College of Medicine

Official's Role

Principal Investigator

Facility Information:

Facility Name

University of Texas Rio Grande Valley

City

Edinburg

State/Province

Texas

ZIP/Postal Code

78539

Country

United States

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Kent Carter, MD

kent.carter@utrgv.edu

12. IPD Sharing Statement

Plan to Share IPD

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Genetic Inclusion by Virtual Evaluation

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