Genomic Uniformed-Screening Against Rare Disease In All Newborns
Recruiting · Not applicable · NCT05990179
Conditions: Early Onset Genetic Conditions With Near Complete Penetrance
At a glance
- Research payments reported, 2025
- $449,686
- U.S. investigators named
- 1
- Sites paid
- 1
- Planned or actual enrollment
- 100,000
About the trial
- Sponsor
- Columbia University (with Illumina, Inc., GeneDx, New York State Department of Health)
- Tested
- Genome sequencing-based newborn screening (other)
- Dates
- Started 2022-09-06; completion 2029-09
- Results posted
- Not yet
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 …
From ClinicalTrials.gov, last updated 2026-09-21. Full record, eligibility and contacts (opens in a new tab)
Industry funding
Genzyme Corporation reported $449,686 in research payments for this study in 2025 (1 payments).
Research payments usually go to hospitals, universities and research sites to run a study, not to the investigators personally. A payment is not evidence of wrongdoing.
U.S. investigators named on this study
Clinicians the company named as principal investigators in its Open Payments reports.
Sites paid to run it
- Columbia University $449,686
Sources: CMS Open Payments research payments (program year 2025) and ClinicalTrials.gov, U.S. National Library of Medicine.