Genetic Inclusion by Virtual Evaluation

NCT05318222 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 200

Last updated 2025-01-30

No results posted yet for this study

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.

Conditions

  • Birth Defects
  • Multiple Congenital Anomaly
  • Neurodevelopmental Disorders

Interventions

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

Sponsors & Collaborators

  • Baylor College of Medicine

    lead OTHER

Principal Investigators

  • Seema Lalani · Baylor College of Medicine

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Day
Max Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-06-01
Primary Completion
2027-01-31
Completion
2027-01-31

Countries

  • United States

Study Locations

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Entities

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05318222 on ClinicalTrials.gov