Genomic Uniformed-Screening Against Rare Disease In All Newborns

NCT05990179 | Recruiting

• 1 other identifier: AAAS9161
• Study Type: interventional
• Target: 100,000
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Newborn screening; Genome sequencing

Outcome Measures

Primary Outcomes (4)

• Enrollment Rate (percentage)

  Enrollment rate will be defined as: number of enrolled newborns / number of newborns approached by the research assistant.

  From study launch to end of enrollment (up to 5 years)

• Successful Sequencing Rate (percentage)

  Successful sequencing rate will be defined as: number of successful sequencing / number of enrolled newborns.

  Up to 6 months after the end of enrollment

• Screen Positive Rate (percentage)

  Screen positive rate will be defined as: number of newborns with a positive screening / number of successful sequencing.

  Up to 6 months after the end of enrollment

• True Positive Rate (percentage)

  True positive rate will be defined as: number of confirmed diagnosis / number of screen positive.

  Up to 6 months after the end of enrollment

Secondary Outcomes (1)

• Score on Decision Regret Scale

  Up to 6 months after the end of enrollment

Study Arms (1)

Enrolled in the study

EXPERIMENTAL

All newborns enrolled in the study will be evaluated.

Other: Genome sequencing-based newborn screening

Interventions

Genome sequencing-based newborn screening OTHER

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

Enrolled in the study

Eligibility Criteria

• Age: 1 Day - 1 Month
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• Newborns admitted to the well-baby nurseries from the recruiting hospitals
• Newborns born after 33 weeks of gestation
• Newborns whose parents are English, Mandarin, or Spanish speaking

Sponsors & Collaborators

• Columbia University: lead
• Illumina, Inc.: collaborator
• GeneDx: collaborator
• New York State Department of Health: collaborator

Study Sites (1)

Columbia University Irving Medical Center/NYP

New York, New York, 10032, United States

RECRUITING

Related Publications (1)

• Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 Jan 21;333(3):232-240. doi: 10.1001/jama.2024.19662.

  PMID: 39446378 DERIVED

Related Links

• GUARDIAN Study Website

Study Officials

• Wendy K. Chung, MD, PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anah Hetzler

CONTACT

212-305-5508; ak3578@cumc.columbia.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Pediatrics and Medicine

Study Record Dates

• First Submitted: August 4, 2023
• First Posted: August 14, 2023
• Study Start: September 6, 2022
• Primary Completion (Estimated): September 1, 2029
• Study Completion (Estimated): September 1, 2029
• Last Updated: September 19, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)