Remote genetic evaluation for children with rare disorders
Virtual Platforms for Genetics Evaluation in the Medically Underserved
This study is testing a new online service to help kids with rare disorders along the Texas-Mexico border get faster genetic evaluations and better healthcare support.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 200 (estimated) |
| Ages | 1 Day to 18 Years |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 1 site (Edinburg, Texas) |
| Trial ID | NCT05318222 on ClinicalTrials.gov |
What this trial studies
This study aims to improve genetic health for children with rare disorders living along the Texas-Mexico border by implementing a web-based service called Consultagene. The approach includes providing remote genetic evaluations and whole genome sequencing to facilitate rapid diagnoses and enhance medical decision-making. Additionally, the study focuses on educating healthcare providers to improve their genomic competency, thereby expediting referrals for pediatric patients with suspected rare diseases. The goal is to address the inadequate access to genetic services in this underserved population.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley and El Paso in Texas.
Not a fit: Patients with known genetic diseases will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could significantly enhance the diagnostic process and health outcomes for children with rare genetic disorders.
How similar studies have performed: While the approach of using virtual evaluations and genomic sequencing is innovative, similar studies have shown promise in improving access to genetic services in underserved populations.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 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
Where this trial is running
Edinburg, Texas
- University of Texas Rio Grande Valley — Edinburg, Texas, United States (Recruiting)
Study contacts
- Principal investigator: Seema Lalani — Baylor College of Medicine
- Study coordinator: Seema Lalani, MD
- Email: seemal@bcm.edu
- Phone: 832-822-4280
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.