NCT05368038 - ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | Biotech Hunter

Enrollment

100,000

Participants

Timeline

Start Date

May 10, 2021

Primary Completion Date

August 31, 2029

Study Completion Date

August 31, 2029

Conditions

Acid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous XanthomatosisFabry DiseaseGM1 GangliosidosisGaucher DiseaseLysosomal Acid Lipase DeficiencyMetachromatic LeukodystrophyMucopolysaccharidosis IIMucopolysaccharidosis III-BMucopolysaccharidosis IV AMucopolysaccharidosis VIMucopolysaccharidosis VIINiemann-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.

Trial Locations (9)

10016

NYU Langone Health - Tisch Hospital, New York

10019

Mount Sinai West, New York

10028

Mount Sinai Hospital, New York

10461

Jack D. Weiler Hospital, The Bronx

10467

ScreenPlus Coordinating Core, Children's Hospital at Montefiore, The Bronx

11030

North Shore University Hospital, Manhasset

11040

Long Island Jewish Medical Center, Queens

11219

Maimonides Medical Center, Brooklyn

11220

NYU Langone Hospital - Brooklyn, Brooklyn