Principal Investigator: Lorenzo  Botto
Keywords: Undiagnosed Disease Program Department: Pediatric Administration
IRB Number: 00115011
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Carrie Bailey
carrie.bailey@hsc.utah.edu
8015873605

Brief Summary

Our goal at the University of Utah is to establish a sustainable, high value clinical site for the Intermountain West that will help the NIH funded Undiagnosed Disease Network (UDN) fully attain its clinical, scientific and organizational Phase 2 goals, including the transition to a sustainable national resource. The specific value that this clinical site will bring to the UDN and the broader community is three-fold: access to large new areas and underserved populations; comprehensive patient evaluation with innovative processes and follow up; and cutting-edge bioinformatics pipelines and tools.

The clinical site will cover much of the Intermountain West, a vast area encompassing approximately 10% of the Continental United States. Residents include rural, minority, and low-income groups that historically have been ‘genetically underserved’ and nearly invisible to care and discovery.

Aim 1. Recruit, evaluate, and follow patients of all ages with undiagnosed diseases across the Intermountain West.

Aim 2. Partner with the UDN to create innovative bioinformatics approaches to patient diagnostics.

Inclusion Criteria

In this study, individuals with undiagnosed diseases, and their family members when applicable, will be investigated. Applicants will apply to the UDN through a secure website managed by the Coordinating Center located at Harvard, called the Gateway, and will be assigned to a clinical site based on an assignment algorithm. The clinical site will collect and review the applicant’s medical records and will accept or not accept the applicant. Accepted applicants will typically be evaluated at the clinical site to which they were assigned; however, applicants may be reassigned to a different site based on presenting problems and the expertise of the site. Enrolled individuals will undergo a comprehensive medical and family history, physical examination, laboratory testing, imaging studies, consultations, and biological specimen collection, typically over the course of up to a five-day evaluation. Follow-up visits may occur if indicated.

Exclusion Criteria

Less likely to be accepted to the UDN:

i. The applicant has a diagnosis that explains the objective findings.

ii. Review of the records suggests a diagnosis and further evaluation by the UDN is deemed unnecessary.

iii. The UDN is unlikely to improve on the comprehensive workup the applicant already received.

iv. The applicant is too seriously ill to travel safely to the clinical site and telemedicine/distance consult is not possible or appropriate.