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Newborn Genomic Sequencing Pilot Study

NCT06276348 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 120

Last updated 2024-11-14

No results posted yet for this study

Summary

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. The main questions this study aims to answer are:

* What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population?
* What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as compared to DWGS?
* What are the potential issues related to implementing DWGS in this population?

Enrolled newborns will have a blood sample taken and will receive three tests:

* DWGS
* BeginNGS
* WES

Conditions

Interventions

GENETIC

Whole genome sequencing

Standard diagnostic whole genome sequencing will be performed.

GENETIC

BeginNGS test

Genomic sequencing that screens for 434 genetic diseases.

GENETIC

WES

Whole exome sequencing will be performed.

Sponsors & Collaborators

  • Rady Pediatric Genomics & Systems Medicine Institute

    lead OTHER

Principal Investigators

  • Stephen Kingsmore, MD DSc · Rady Children's Institute for Genomic Medicine

Study Design

Allocation
NA
Purpose
SCREENING
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Day
Max Age
10 Days
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-03-13
Primary Completion
2024-02-28
Completion
2024-11-12

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06276348 on ClinicalTrials.gov