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Genomic Uniformed-Screening Against Rare Disease In All Newborns

NCT05990179 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100000

Last updated 2025-09-19

No results posted yet for this study

Summary

The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening. Newborn screening ensures equity and allows all babies to have the same chance at the healthiest life. Families will be invited to have their newborn baby screened for additional conditions beyond what all babies are screened for as part of the newborn screening public health program. Families can choose to be part of the study or choose not to be part of the study and just have the routine newborn screening test. Families will also be able to choose to learn about their baby's risk for conditions that have effective treatments available but are not on the routine newborn screening panel or also learn about conditions for which there is not currently FDA approved medications but for which medications are under development or for which early intervention services or treatment of seizures may improve the child's outcome. Families will be invited to the study shortly after the baby is born and will learn the decision not to participate, and we will interview a subset of parents who agree to be interviewed. Newborns who screen positive will be referred to appropriate providers for care and will be followed through review of electronic medical records and parental follow up via phone, text, postal mail or email.

Conditions

  • Early Onset Genetic Conditions With Near Complete Penetrance

Interventions

OTHER

Genome sequencing-based newborn screening

Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing based screening of a defined set of conditions.

Sponsors & Collaborators

  • Illumina, Inc.

    collaborator INDUSTRY

  • GeneDx

    collaborator UNKNOWN

  • New York State Department of Health

    collaborator OTHER_GOV

  • Columbia University

    lead OTHER

Principal Investigators

  • Wendy K. Chung, MD, PhD · Boston Children's Hospital

Study Design

Allocation
NA
Purpose
SCREENING
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Day
Max Age
1 Month
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-09-06
Primary Completion
2029-09-30
Completion
2029-09-30

Countries

  • United States

Study Locations

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Entities

Companies

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 NCT05990179 on ClinicalTrials.gov