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ENROLLING BY INVITATION
NCT05368038

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Sponsor: Albert Einstein College of Medicine

View on ClinicalTrials.gov

Summary

ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in a large newborn population, and 3) assess the impact of early diagnosis on health outcomes. Over a nine-year period, ScreenPlus aims to screen 100,000 infants born in eight high birthrate hospitals in New York for a flexible panel of rare genetic disorders. This study will also evaluate the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.

Key Details

Gender

All

Age Range

Any - 4 Weeks

Study Type

OBSERVATIONAL

Enrollment

100000

Start Date

2021-05-10

Completion Date

2029-08-31

Last Updated

2025-09-12

Healthy Volunteers

Yes

Interventions

DIAGNOSTIC_TEST

Confirmatory Testing

All positive screens will be referred using standard notification procedures, where the New York State NBS reporting team contacts the ScreenPlus site medical geneticist, who will contact the newborn's pediatrician and family. The initial evaluation will include a clinical examination and confirmatory molecular studies, enzymatic and biomarker studies, when available. All aspects of the confirmatory testing will be at no cost to the participants. If confirmed to have a ScreenPlus disorder, the investigators will counsel the family and help connect them with treatment, clinical trials and disease specialists. The investigators will also provide emotional and social support resources to help in this journey.

Locations (9)

Maimonides Medical Center

Brooklyn, New York, United States

NYU Langone Hospital - Brooklyn

Brooklyn, New York, United States

North Shore University Hospital

Manhasset, New York, United States

NYU Langone Health - Tisch Hospital

New York, New York, United States

Mount Sinai West

New York, New York, United States

Mount Sinai Hospital

New York, New York, United States

Long Island Jewish Medical Center

Queens, New York, United States

Jack D. Weiler Hospital

The Bronx, New York, United States

ScreenPlus Coordinating Core, Children's Hospital at Montefiore

The Bronx, New York, United States