An interventional study of Whole genome sequencing (WGS) in Birth Defects, Multiple Congenital Anomaly and Neurodevelopmental Disorders, sponsored by Baylor College of Medicine. Recruiting at 1 site in United States. Open to participants aged 1 Day to 18 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-01.
Sponsored by Baylor College of Medicine · Not applicable, Interventional, and Diagnostic
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.
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.
781 studies on the registry are indexed under Congenital Abnormalities; 77 are open to participants now.
This study's planned enrollment of 200 is above the median of 40 across 466 interventional studies indexed under Congenital Abnormalities.
Browse Congenital Abnormalities studies →Baylor College of Medicine is the lead sponsor of 747 studies on the registry; 110 are open to participants now.
Of its 84 completed or terminated interventional studies of FDA-regulated products, 45 (54%) have results posted.
Compared within Congenital Abnormalities, the registry's first condition term, which may not be this study's main condition. Counted across the registry records on this site, refreshed daily. How we classify →
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Pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley and El Paso in Texas
Exclusion Criteria:
Children with known genetic diseases
All 200 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
Time to diagnosis
Time frame: 12 months
Plan to share: No
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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