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

Enrolling by invitation

Conditions studied: Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C

In brief

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 facts

Study ID

NCT05368038

Run by

Albert Einstein College of Medicine

People needed

100000

Starts

2021-05-10

Expected to finish

2029-08-31

Last updated by the study team

2026-07-28

Who can join

Age: any, up to 0. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• All newborn infants born at a ScreenPlus pilot hospital
• Infants who are less than four weeks old, regardless of sex, gestational age, or health status.

You may not qualify if…

• A newborn screening sample is unavailable
• Infants who are more than four weeks old

Where it is running

• 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

Full record on ClinicalTrials.gov

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