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

NCT05368038 | Enrolling By Invitation

• 2 other identifiers: 2019-10774R01HD073292
• Study Type: observational
• Target: 100,000
• Locations: 1 country
• Sites: 9

Brief 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

Keywords

Newborn Screening; Rare Diseases; Families; Genetics; ELSI

Outcome Measures

Primary Outcomes (2)

• Evaluate the accuracy of the screening assays.

  Accuracy of the screening assay will be defined in terms of positive predictive value (proportion of confirmed cases comparative to the total number of infants who screened positive).

  Through study completion up to 9 years.

• Define disease incidence in a large newborn population.

  Disease incidence will be calculated as the proportion of infants with a disorder comparative to the total population of infants screened.

  Through study completion up to 9 years.

Study Arms (1)

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.

Diagnostic Test: Confirmatory Testing

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.

Newborn infants born at a ScreenPlus pilot hospital

Eligibility Criteria

• Age: Up to 4 Weeks
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Newborns born at a ScreenPlus pilot hospital who are less than four weeks old.

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

Sponsors & Collaborators

• Albert Einstein College of Medicine: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Alexion Pharmaceuticals, Inc.: collaborator
• BioMarin Pharmaceutical: collaborator
• Cure Sanfilippo Foundation: collaborator
• Dana's Angels Research Trust (DART): collaborator
• Mirum Pharmaceuticals, Inc.: collaborator
• Orchard Therapeutics: collaborator
• Passage Bio, Inc.: collaborator
• Genzyme, a Sanofi Company: collaborator
• Sio Gene Therapies: collaborator
• Takeda Pharmaceuticals North America, Inc.: collaborator
• The FireFly Fund: collaborator
• The Noah's Hope - Hope 4 Bridget Family Foundations: collaborator
• Travere Therapeutics, Inc.: collaborator
• Ultragenyx Pharmaceutical Inc: collaborator
• Ara Parseghian Medical Research Fund: collaborator
• New York State Department of Health: collaborator
• Case Western Reserve University: collaborator

Study Sites (9)

Maimonides Medical Center

Brooklyn, New York, 11219, United States

Location

NYU Langone Hospital - Brooklyn

Brooklyn, New York, 11220, United States

Location

North Shore University Hospital

Manhasset, New York, 11030, United States

Location

NYU Langone Health - Tisch Hospital

New York, New York, 10016, United States

Location

Mount Sinai West

New York, New York, 10019, United States

Location

Mount Sinai Hospital

New York, New York, 10028, United States

Location

Long Island Jewish Medical Center

Queens, New York, 11040, United States

Location

Jack D. Weiler Hospital

The Bronx, New York, 10461, United States

Location

ScreenPlus Coordinating Core, Children's Hospital at Montefiore

The Bronx, New York, 10467, United States

Location

Related Publications (3)

• Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. ScreenPlus: A comprehensive, multi-disorder newborn screening program. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar.

  PMID: 38173711 BACKGROUND

• Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.

  PMID: 20154628 BACKGROUND

• Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.

  PMID: 30093709 BACKGROUND

Related Links

• Official ScreenPlus information page on the Albert Einstein College of Medicine website.

MeSH Terms

Conditions

Niemann-Pick Diseases; Ceroid Lipofuscinosis, Neuronal, 2; Xanthomatosis, Cerebrotendinous; Fabry Disease; Gangliosidosis, GM1; Gaucher Disease; Wolman Disease; Leukodystrophy, Metachromatic; Mucopolysaccharidosis II; Mucopolysaccharidosis III; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Niemann-Pick Disease, Type C; Rare Diseases

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Xanthomatosis; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Gangliosidoses; Cholesterol Ester Storage Disease; Infant, Newborn, Diseases; Hereditary Central Nervous System Demyelinating Diseases; Sulfatidosis; Leukoencephalopathies; Demyelinating Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Melissa Wasserstein, MD

  Albert Einstein College of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 6, 2022
• First Posted: May 10, 2022
• Study Start: May 10, 2021
• Primary Completion (Estimated): August 31, 2029
• Study Completion (Estimated): August 31, 2029
• Last Updated: September 12, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (9)