Rapid Diagnostics for Genetic Disorders in Neonates

Not Applicable

Not yet recruiting

• Conditions: Acid Base Disorder

• Registration Number: NCT07005700
• Lead Sponsor: Sharp HealthCare

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2025-04-09
• Status Verified: 2025-05
• Study First Submitted QC: 2025-05-27
• Last Update Submitted: 2025-05-27
• Study First Posted: 2025-06-05
• Last Update Posted: 2025-06-05
• Study Start: 2025-06-30
• Primary Completion: 2026-12
• Study Completion: 2027-05

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

neonates of any gestational age.

• Abnormality in routine neonatal screening test.
• Unexplained neonatal hypotonia or neonate-onset seizures.
• Unexplained and abnormal biochemical laboratory findings.
• Skeletal dysplasia or joint problems.

Exclusion Criteria

• Parental refusal of consent to participate.
• Provider refusal.
• Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Identification of genes associated with congenital diseases	birth through hospital discharge or up to 1 month of age	A finding that a participant has one of the genes among the 254 included in the targeted gene panel being used. These genes are associated with metabolic, lysosomal storage, immunodeficiency, hemoglobinopathy, and channelopathy diseases, sensorineural hearing loss, and other conditions typically exposed through newborn screening.

Trial Locations

Locations (1)

Sharp Mary Birch Hospital for Women and Newborns; 🇺🇸 San Diego, California, United States