Remote genetic evaluation for children with rare disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.