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

NCT06306521 | Recruiting

• 1 other identifier: 20235517
• Study Type: interventional
• Target: 10,000
• Locations: 1 country
• Sites: 1

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

Keywords

newborn screening

Outcome Measures

Primary Outcomes (1)

• 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

  The proportion of enrollees likely to benefit (likely to have an improved outcome) from an indicated therapeutic intervention (as per an electronic clinical management system, Genome-to-Treatment, GTRx)

  5 years

Secondary Outcomes (29)

• Utility secondary outcome 1

  5 years

• Utility secondary outcome 2

  5 years

• Utility secondary outcome 3

  5 years

• Utility secondary outcome 4

  5 years

• Utility secondary outcome 5

  5 years

Study Arms (1)

Enrollees

EXPERIMENTAL

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

Genetic: BeginNGS Test

Interventions

BeginNGS Test GENETIC

Genomic sequencing that screens for over 400 genetic diseases.

Enrollees

Eligibility Criteria

• Age: 1 Day - 28 Days
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

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

You may not qualify if:

• Neonates whose mother is less than 18 years of age.
• Neonates who are wards of the state.
• Neonates whose parent/legal guardian is unable to provide consent.
• Parents with a home address outside the US or jurisdiction of the enrollment sites.
• 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.
• Neonates who are under consideration for a rapid diagnostic genome sequence or other diagnostic genetic testing.
• Neonates who are not expected to survive the neonatal period.

Sponsors & Collaborators

• Rady Pediatric Genomics & Systems Medicine Institute: lead

Study Sites (1)

Rady Children's Hospital San Diego

San Diego, California, 92123, United States

RECRUITING

Related Publications (1)

• Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF; BeginNGS Consortium. Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. BMJ Open. 2025 Nov 13;15(11):e098609. doi: 10.1136/bmjopen-2024-098609.

  PMID: 41238356 DERIVED

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Stephen Kingsmore, MD DSc

  Rady Children's Institute for Genomic Medicine

  PRINCIPAL INVESTIGATOR

• Rebecca Reimers, MD MPH

  Rady Children's Institute for Genomic Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lauren Olsen, MSN

CONTACT

858-576-1700; lolsen1@rchsd.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: President and CEO

Study Record Dates

• First Submitted: February 22, 2024
• First Posted: March 12, 2024
• Study Start: February 29, 2024
• Primary Completion (Estimated): February 1, 2029
• Study Completion (Estimated): February 1, 2029
• Last Updated: March 12, 2024

Record last verified: 2024-03

Locations

US (1)