NCT06276348

Brief 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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
120

participants targeted

Target at P50-P75 for not_applicable

Timeline
Completed

Started Mar 2023

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 13, 2023

Completed
11 months until next milestone

First Submitted

Initial submission to the registry

February 16, 2024

Completed
10 days until next milestone

First Posted

Study publicly available on registry

February 26, 2024

Completed
2 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2024

Completed
9 months until next milestone

Study Completion

Last participant's last visit for all outcomes

November 12, 2024

Completed
Last Updated

November 14, 2024

Status Verified

November 1, 2024

Enrollment Period

12 months

First QC Date

February 16, 2024

Last Update Submit

November 12, 2024

Conditions

Genetic Disease

Outcome Measures

Primary Outcomes (1)

  • Proportion of enrolled infants who are diagnosed with a genetic disease by DWGS.

    Proportion

    18 months

Secondary Outcomes (8)

  • Proportion of enrolled infants who are identified with a genetic disease by BeginNGS.

    18 months

  • Proportion of enrolled infants who are identified with a genetic disease by WES.

    18 months

  • Proportion of enrolled infants who have a positive standard NBS test.

    18 months

  • Proportion of parents approached who agree to participate in the study.

    18 months

  • Parental reasons for refusal.

    18 months

  • +3 more secondary outcomes

Study Arms (1)

Enrollees

EXPERIMENTAL

Enrolled infants will receive 3 tests (DWGS, BeginNGS, and WES). DWGS will be performed in a standard manner. BeginNGS and WES will be performed in a batch after completion of enrollment. The diagnostic sensitivity and specificity of BeginNGS and WES will be compared to DWGS (a standard clinical test compliant with the Clinical Laboratory Improvement Amendments Act).

Genetic: Whole genome sequencingGenetic: BeginNGS testGenetic: WES

Interventions

Whole genome sequencingGENETIC

Standard diagnostic whole genome sequencing will be performed.

Enrollees
BeginNGS testGENETIC

Genomic sequencing that screens for 434 genetic diseases.

Enrollees
WESGENETIC

Whole exome sequencing will be performed.

Enrollees

Eligibility Criteria

Age1 Day - 10 Days
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)

You may qualify if:

  • Neonates less than or equal to 10 days old who are admitted to the RCHSD NICU.

You may not qualify if:

  • Neonates who have enrolled in another clinical study at Rady Children's Institute for Genomic Medicine or in whom DWGS has been ordered or is being considered.
  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Rady Children's Hospital San Diego

San Diego, California, 92123, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Whole Genome Sequencing

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNASequence AnalysisGenetic TechniquesInvestigative Techniques

Study Officials

  • Stephen Kingsmore, MD DSc

    Rady Children's Institute for Genomic Medicine

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
SCREENING
Intervention Model
SINGLE GROUP
Model Details: Single group, multiple interventions. All enrollees receive all interventions.
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
President and CEO

Study Record Dates

First Submitted

February 16, 2024

First Posted

February 26, 2024

Study Start

March 13, 2023

Primary Completion

February 28, 2024

Study Completion

November 12, 2024

Last Updated

November 14, 2024

Record last verified: 2024-11

Locations

US(1)