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

Conditions

• Acid Sphingomyelinase Deficiency
• Cerebrotendinous Xanthomatosis
• Ceroid Lipofuscinosis, Neuronal, 2
• 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

Eligibility Criteria

Sex

ALL

Age

N/A - 4 Weeks

Healthy Volunteers

Accepted

Interventions

• Confirmatory Testing — DIAGNOSTIC_TEST
  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.

Study Details

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 Dates

Start date

May 10, 2021

Status verified

Sep 2025

Primary completion

Aug 31, 2029

Completion

Aug 31, 2029

Study Design

Enrollment

100,000 participants (estimated)

Arms

• Arm: Newborn infants born at a ScreenPlus pilot hospital
  Parents who give permission will have their infant's sample screened for the ScreenPlus panel. Infants who screen positive after multi-tiered testing will be referred to a ScreenPlus doctor for confirmatory testing and care coordination.

Primary Outcome Measure

Evaluate the accuracy of the screening assays. [ Time Frame: Through study completion up to 9 years. ]

Locations (9)

Find similar trials in Brooklyn, NY

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