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Genetic Inclusion by Virtual Evaluation (GIVE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT05318222
Recruitment Status : Recruiting
First Posted : April 8, 2022
Last Update Posted : March 20, 2023
Information provided by (Responsible Party):
Seema Lalani, Baylor College of Medicine

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) Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated 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 : June 1, 2022
Estimated Primary Completion Date : January 31, 2024
Estimated Study Completion Date : January 31, 2024

Arm Intervention/treatment
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

Primary Outcome Measures :
  1. Time to diagnosis [ Time Frame: 12 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Day to 18 Years   (Child, Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05318222

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Contact: Seema Lalani, MD 832-822-4280 seemal@bcm.edu
Contact: Brendan Lee, MD; PhD 832-822-4280 blee@bcm.edu

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United States, Texas
University of Texas Rio Grande Valley Recruiting
Edinburg, Texas, United States, 78539
Contact: Kent Carter, MD       kent.carter@utrgv.edu   
Sponsors and Collaborators
Baylor College of Medicine
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Principal Investigator: Seema Lalani Baylor College of Medicine
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Responsible Party: Seema Lalani, Professor, Baylor College of Medicine
ClinicalTrials.gov Identifier: NCT05318222    
Other Study ID Numbers: H-50430
First Posted: April 8, 2022    Key Record Dates
Last Update Posted: March 20, 2023
Last Verified: March 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Congenital Abnormalities
Abnormalities, Multiple
Neurodevelopmental Disorders
Mental Disorders