New york program offers extra screening for 100,000 newborns

NCT ID NCT05368038

ENROLLING_BY_INVITATION Diagnosis Sponsor: Albert Einstein College of Medicine Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jul 29, 2026 · Updated 2 times

Summary

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will evaluate the accuracy of the screening tests and study the impact of early diagnosis on health outcomes.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this could lead to earlier diagnosis and better health outcomes for babies with rare genetic disorders.
What could go wrong: This is an observational screening study, not a treatment trial. It will not directly cure or treat any condition. The impact depends on follow-up care.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

acid sphingomyelinase deficiency cerebrotendinous xanthomatosis Ceroid Lipofuscinosis, Neuronal, 2 Fabry disease Gaucher disease GM1 gangliosidosis lysosomal acid lipase deficiency metachromatic leukodystrophy Mucopolysaccharidosis III Mucopolysaccharidosis IV mucopolysaccharidosis type 2 mucopolysaccharidosis type 3B mucopolysaccharidosis type 4A mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 neuronal ceroid lipofuscinosis 2 Niemann-Pick disease Niemann-Pick disease type C Rare Diseases Wolman disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ACID SPHINGOMYELINASE DEFICIENCY CEREBROTENDINOUS XANTHOMATOSIS CEROID LIPOFUSCINOSIS, NEURONAL, 2 FABRY DISEASE GAUCHER DISEASE GM1 GANGLIOSIDOSIS LYSOSOMAL ACID LIPASE DEFICIENCY METACHROMATIC LEUKODYSTROPHY MUCOPOLYSACCHARIDOSIS II MUCOPOLYSACCHARIDOSIS III-B MUCOPOLYSACCHARIDOSIS IV A MUCOPOLYSACCHARIDOSIS VI MUCOPOLYSACCHARIDOSIS VII NIEMANN-PICK DISEASE, TYPE C

Contacts and locations

Locations

Jack D. Weiler Hospital

The Bronx, New York, 10461, United States
Long Island Jewish Medical Center

Queens, New York, 11040, United States
Maimonides Medical Center

Brooklyn, New York, 11219, United States
Mount Sinai Hospital

New York, New York, 10028, United States
Mount Sinai West

New York, New York, 10019, United States
NYU Langone Health - Tisch Hospital

New York, New York, 10016, United States
NYU Langone Hospital - Brooklyn

Brooklyn, New York, 11220, United States
North Shore University Hospital

Manhasset, New York, 11030, United States
ScreenPlus Coordinating Core, Children's Hospital at Montefiore

The Bronx, New York, 10467, United States

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