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

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.

Conditions

• 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

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.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  collaborator NIH

• Alexion Pharmaceuticals, Inc.

  collaborator INDUSTRY

• BioMarin Pharmaceutical

  collaborator INDUSTRY

• Cure Sanfilippo Foundation

  collaborator UNKNOWN

• Dana's Angels Research Trust (DART)

  collaborator UNKNOWN

• Mirum Pharmaceuticals, Inc.

  collaborator INDUSTRY

• Orchard Therapeutics

  collaborator INDUSTRY

• Passage Bio, Inc.

  collaborator INDUSTRY

• Genzyme, a Sanofi Company

  collaborator INDUSTRY

• Sio Gene Therapies

  collaborator INDUSTRY

• Takeda Pharmaceuticals North America, Inc.

  collaborator INDUSTRY

• The FireFly Fund

  collaborator UNKNOWN

• The Noah's Hope - Hope 4 Bridget Family Foundations

  collaborator UNKNOWN

• Travere Therapeutics, Inc.

  collaborator INDUSTRY

• Ultragenyx Pharmaceutical Inc

  collaborator INDUSTRY

• Ara Parseghian Medical Research Fund

  collaborator UNKNOWN

• New York State Department of Health

  collaborator OTHER_GOV

• Case Western Reserve University

  collaborator OTHER

• Albert Einstein College of Medicine

  lead OTHER

Principal Investigators

• Melissa Wasserstein, MD · Albert Einstein College of Medicine

Eligibility

Max Age

4 Weeks

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-05-10

Primary Completion

2029-08-31

Completion

2029-08-31

Countries

• United States

Study Locations