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

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.

NCT Number	NCT05368038
Lead Sponsor	Albert Einstein College of Medicine Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Alexion Pharmaceuticals, Inc., BioMarin Pharmaceutical, Cure Sanfilippo Foundation, Dana's Angels Research Trust (DART), Mirum Pharmaceuticals, Inc., Orchard Therapeutics, Passage Bio, Inc., Genzyme, a Sanofi Company, Sio Gene Therapies, Takeda Pharmaceuticals North America, Inc., The FireFly Fund, The Noah's Hope - Hope 4 Bridget Family Foundations, Travere Therapeutics, Inc., Ultragenyx Pharmaceutical Inc, Ara Parseghian Medical Research Fund, New York State Department of Health, Case Western Reserve University, Chiesi USA, Inc., Mayo Clinic Biopharma Diagnostics
Conditions	Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy +6 more
Enrollment	100,000 participants
Start Date	2021-05-10
Primary Completion	2029-08-31 (estimated)
Study Completion	2029-08-31 (estimated)
Updated on ClinicalTrials.gov	2026-07-28