Clinical Trial

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Recruiting
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Summary
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.
Protocol Amendment History 4 amendments
This ClinicalTrials.gov record has been amended 4 times since 2018-03-02; most recent amendment 2024-11-06.
Status change: Enrolling by Invitation → Recruiting 2022-11-11
Trial Details
NCT Number NCT03458962
Lead Sponsor Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Collaborators: Rady Pediatric Genomics & Systems Medicine Institute
Conditions Genetic Disease, Genetic Syndrome
Enrollment 1,000 participants
Start Date 2018-02-20
Primary Completion 2070-03 (estimated)
Study Completion 2070-03 (estimated)
Updated on ClinicalTrials.gov 2024-11-07