NCT05318222

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for not_applicable

Timeline
9mo left

Started Jun 2022

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress84%
Jun 2022Jan 2027

First Submitted

Initial submission to the registry

March 31, 2022

Completed
8 days until next milestone

First Posted

Study publicly available on registry

April 8, 2022

Completed
2 months until next milestone

Study Start

First participant enrolled

June 1, 2022

Completed
4.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 31, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 31, 2027

Last Updated

January 30, 2025

Status Verified

January 1, 2025

Enrollment Period

4.7 years

First QC Date

March 31, 2022

Last Update Submit

January 28, 2025

Conditions

Birth DefectsMultiple Congenital AnomalyNeurodevelopmental Disorders

Outcome Measures

Primary Outcomes (1)

  • Time to diagnosis

    12 months

Study Arms (1)

WGS arm

OTHER

All 200 patients recruited will undergo WGS

Diagnostic Test: Whole genome sequencing (WGS)

Interventions

Whole genome sequencing (WGS)DIAGNOSTIC_TEST

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

WGS arm

Eligibility Criteria

Age1 Day - 18 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley and El Paso in Texas

You may not qualify if:

  • Children with known genetic diseases

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Texas Rio Grande Valley

Edinburg, Texas, 78539, United States

RECRUITING

MeSH Terms

Conditions

Congenital AbnormalitiesAbnormalities, MultipleNeurodevelopmental Disorders

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesMental Disorders

Study Officials

  • Seema Lalani

    Baylor College of Medicine

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Seema Lalani, MD

CONTACT

832-822-4280seemal@bcm.edu

Brendan Lee, MD; PhD

CONTACT

832-822-4280blee@bcm.edu

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

March 31, 2022

First Posted

April 8, 2022

Study Start

June 1, 2022

Primary Completion (Estimated)

January 31, 2027

Study Completion (Estimated)

January 31, 2027

Last Updated

January 30, 2025

Record last verified: 2025-01

Data Sharing

IPD Sharing
Will not share

Locations

US(1)