Recruiting

BeginNGS

Sponsor:

Rady Pediatric Genomics & Systems Medicine Institute

Code:

NCT06306521

Conditions

Genetic Disease

Eligibility Criteria

Sex: All

Age: 0

Healthy Volunteers: Accepted

Interventions

BeginNGS Test

Study Details

Brief summary:

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.

Conditions

Genetic Disease

Study ID

NCT06306521

Start date

Feb 29, 2024

Status verified date

Mar, 2024

Completion date

Feb, 2029

Anticipated

Primary completion date

Feb, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0

Healthy Volunteers: Accepted

Inclusion Criteria:

1. Neonates (<28 days old) at enrollment sites.
2. Parents must have identified a primary care provider (or group).

Exclusion Criteria:

1. Neonates whose mother is less than 18 years of age.
2. Neonates who are wards of the state.
3. Neonates whose parent/legal guardian is unable to provide consent.
4. Parents with a home address outside the US or jurisdiction of the enrollment sites.
5. Neonates or fetuses who are ill and in whom enrollment or sampling is anticipated to interfere with healthcare provision at delivery. For example, fetuses or neonates who are likely to require transfer to a higher level of care, such as to a Level IV NICU upon delivery.
6. Neonates who are under consideration for a rapid diagnostic genome sequence or other diagnostic genetic testing.
7. Neonates who are not expected to survive the neonatal period.

Study Design

Enrollment

10000 participants

Anticipated

Intervention Model

Single group

Primary purpose

Screening

Interventions and Outcome Measures

Arms

experimental: Enrollees

Enrolled infants will receive the BeginNGS test in addition to the state newborn screen.

Interventions

BeginNGS Test

Genomic sequencing that screens for over 400 genetic diseases.

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 and Locations

Central contacts

Locations

Rady Children's Hospital San Diego

Recruiting

San Diego, California, United States, 92123

Contacts

More Information

Sponsor

Rady Pediatric Genomics & Systems Medicine Institute

Last update posted

Mar 12, 2024

Last verified

Mar, 2024

Keywords

  • newborn screening

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Rady Pediatric Genomics & Systems Medicine Institute on 2024-03-12.