Clinical trialNCT06306521RecruitingInterventional

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

SponsorRady Pediatric Genomics & Systems Medicine InstituteEnrollment10,000Genetic Disease

View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

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.

clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a findmyKOL profile link to it; the rest are shown as registered.

Rebecca Reimers, MD MPH
Rady Children's Institute for Genomic Medicine
Principal Investigator
clinicaltrials.gov ↗
Stephen Kingsmore, MD DSc
Rady Children's Institute for Genomic Medicine
Principal Investigator
clinicaltrials.gov ↗

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

1 registered facility, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States

Rady Children'S Hospital San Diego
San Diego, California, United States
Recruiting

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study. It may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start: 29 Feb 2024
Primary completion: 28 Feb 2029
Completion: 28 Feb 2029
Last update posted: 12 Mar 2024
Registered enrollment: 10,000
Registry id: NCT06306521

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; findmyKOL does not interpret them.