Rapid Diagnostics for Genetic Disorders in Neonates

The goal of this study is to test a prototype genomic blood analysis for identifying rare diseases in infants hospitalized in the neonatal intensive care unit (NICU). The main question it aims to answer is: Does the prototype accurately identify genetic variation(s) associated with an infant's health condition? Researchers will compare the prototype's gene identification to traditional genome sequencing methods of gene identification. Participants will be asked to provide a very small (one-tenth of a teaspoon) sample of blood, one-time.

NCT Number	NCT07005700
Lead Sponsor	Sharp HealthCare Collaborators: MedySapiens
Conditions	Acid Base Disorder
Enrollment	100 participants
Start Date	2025-06-30
Primary Completion	2026-12 (estimated)
Study Completion	2027-05 (estimated)
Updated on ClinicalTrials.gov	2025-06-05