RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2024-02-29
Study Completion:2029-02
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06306521

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Day to 28 Days
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD
Inclusion CriteriaExclusion Criteria
  1. 1. Neonates (\<28 days old) at enrollment sites.
  2. 2. Parents must have identified a primary care provider (or group).
  1. 1. Neonates whose mother is less than 18 years of age.
  2. 2. Neonates who are wards of the state.
  3. 3. Neonates whose parent/legal guardian is unable to provide consent.
  4. 4. Parents with a home address outside the US or jurisdiction of the enrollment sites.
  5. 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. 6. Neonates who are under consideration for a rapid diagnostic genome sequence or other diagnostic genetic testing.
  7. 7. Neonates who are not expected to survive the neonatal period.

Contacts and Locations

Study Contact

Lauren Olsen, MSN
CONTACT
858-576-1700
lolsen1@rchsd.org

Principal Investigator

Stephen Kingsmore, MD DSc
PRINCIPAL_INVESTIGATOR
Rady Children's Institute for Genomic Medicine
Rebecca Reimers, MD MPH
PRINCIPAL_INVESTIGATOR
Rady Children's Institute for Genomic Medicine

Study Locations (Sites)

Rady Children's Hospital San Diego
San Diego, California, 92123
United States

Collaborators and Investigators

Sponsor: Rady Pediatric Genomics & Systems Medicine Institute

  • Stephen Kingsmore, MD DSc, PRINCIPAL_INVESTIGATOR, Rady Children's Institute for Genomic Medicine
  • Rebecca Reimers, MD MPH, PRINCIPAL_INVESTIGATOR, Rady Children's Institute for Genomic Medicine

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-02-29
Study Completion Date2029-02

Study Record Updates

Study Start Date2024-02-29
Study Completion Date2029-02

Terms related to this study

Keywords Provided by Researchers

  • newborn screening

Additional Relevant MeSH Terms

  • Genetic Disease