NCT07005700

Rapid Diagnostics for Genetic Disorders in Neonates

Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.

• Status: Not Yet Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 100 (estimated)
• Sponsor: Sharp HealthCare · Academic / Other
• Sex: All
• Age: 1 Day – 6 Months
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Acid Base Disorder

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Targeted genomic sequencing	Single 0.5 mL venous or capillary blood sample.

Timeline

• Start date: 2025-06-30
• Primary completion: 2026-12-01
• Completion: 2027-05-01
• First posted: 2025-06-05
• Last updated: 2025-06-05

Locations

1 site across 1 country: United States