An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

Part of paid clinical trials in San Diego, California.

Sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Study ID
NCT06306521
Status
Recruiting
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Conditions

  • Genetic Disease

Eligibility Criteria

Sex
ALL
Age
1 Day - 28 Days
Healthy Volunteers
Accepted

Interventions

  • BeginNGS Test — GENETIC
    Genomic sequencing that screens for over 400 genetic diseases.

Study Details

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings. The main questions this study aims to answer are: What is the utility of BeginNGS as compared to state newborn screening? What is the acceptability and feasibility of BeginNGS as compared to state newborn screening? What is the cost effectiveness of BeginNGS as compared to state newborn screening? Enrolled newborns will have a blood sample taken and will receive the BeginNGS test. Newborns will have also had the state newborn screening test.

Key Dates

Start date
Feb 29, 2024
Status verified
Mar 2024
Primary completion
Feb 28, 2029
Completion
Feb 28, 2029

Study Design

Enrollment
10,000 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING

Arms

  • Experimental: Enrollees
    Enrolled infants will receive the BeginNGS test in addition to the state newborn screen.

Primary Outcome Measure

Comparison of the clinical utility of BeginNGS and standard of care (state NBS), defined by the proportion of enrollees likely to benefit (likely to have an improved outcome) from an indicated therapeutic intervention [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Rady Children's Hospital San DiegoSan DiegoCalifornia92123
Lauren Olsen, MSN
[email protected]
858-576-1700

Find similar trials in San Diego, CA

By research site
Rady Children's Hospital San Diego· San Diego, CA

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