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Genomic Uniformed-Screening Against Rare Disease In All Newborns

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1 day
Maximum Age: 1 month
Healthy Volunteers: t
View:

• 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

Locations
United States
New York
Columbia University Irving Medical Center/NYP
RECRUITING
New York
Contact Information
Primary
Anah Hetzler
ak3578@cumc.columbia.edu
212-305-5508
Time Frame
Start Date: 2022-09-06
Estimated Completion Date: 2029-09
Participants
Target number of participants: 100000
Treatments
Experimental: Enrolled in the study
All newborns enrolled in the study will be evaluated.
Related Therapeutic Areas
Sponsors
Collaborators: GeneDx, New York State Department of Health, Illumina, Inc.
Leads: Columbia University

This content was sourced from clinicaltrials.gov