Actively Recruiting

Phase Not Applicable
Age: 1Day - 28Days
All Genders
Healthy Volunteers
ID06306521

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

Led by Rady Pediatric Genomics & Systems Medicine Institute · Updated on 2024-03-12

10000

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are evaluating a new newborn screening method called BeginNGS, which uses whole genome sequencing to screen for hundreds of genetic diseases. This adaptive clinical trial aims to compare BeginNGS with the current standard state newborn screening to assess its usefulness, acceptability, feasibility, and cost effectiveness. The study focuses on newborns less than 28 days old, with the goal of improving early diagnosis and treatment of many genetic diseases not covered by standard screening. Participants will have a blood sample taken to perform the BeginNGS test in addition to the routine state newborn screening. BeginNGS targets over 400 genetic diseases and adapts over time by adding or removing disorders based on emerging evidence of treatment benefits. The study plans to enroll at least 10,000 newborns, with potential expansion up to 100,000, to support broad implementation of this genome sequencing approach. During the trial, newborns and their parents will be involved in providing consent and blood samples. Researchers will compare the clinical utility of BeginNGS to state screening by measuring the proportion of newborns likely to benefit from treatment over five years. The study will also track acceptability, feasibility, cost effectiveness, and accuracy of BeginNGS, with results collected and analyzed over a five-year period.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 1Day - 28Days
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Neonates less than 28 days old at enrollment sites
  • Parents must have identified a primary care provider or group
Not Eligible

You will not qualify if you...

  • Neonates whose mother is less than 18 years of age
  • Neonates who are wards of the state
  • Neonates whose parent or 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 enrollment or sampling would interfere with healthcare at delivery
  • Neonates likely to require transfer to a higher level of care such as a Level IV NICU upon delivery
  • Neonates under consideration for rapid diagnostic genome sequencing or other genetic testing
  • Neonates not expected to survive the neonatal period

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Surveillance

Duration - Up to 5 years

Participants who undergo routine newborn screening are observed with additional genomic sequencing to identify genetic diseases.

Assessments may occur during routine healthcare visits

Trial Site Locations

Total: 1 location

1

Rady Children's Hospital San Diego

San Diego, California, United States, 92123

Actively Recruiting

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Research Team

L

Lauren Olsen, MSN

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

SCREENING

Number of Arms

1

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Published Research Related To This Trial

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.

Rebecca Reimers, Miranda Bailey, Chester Brown...

https://pubmed.ncbi.nlm.nih.gov/41238356