A new pilot newborn screening program that allows parents to screen their newborns for 14 rare genetic diseases, including lysosomal acid lipase deficiency (LAL-D), has been launched in New York.

The study, called ScreenPlus, is enrolling participants aged less than 4 weeks of any sex, gestational age, and health status who were born at 1 of 9 centers in the state. It is being implemented in conjunction with the New York State Newborn Screening Program and aims to screen 175,000 infants over 5 years.

The primary objectives of the study are to evaluate the accuracy of the screening assays, define disease incidence in an ethnically diverse population, and assess the impact of early diagnosis on health outcomes. The study will also use online surveys to evaluate the ethical, legal, and social issues related to newborn screening.

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The infant samples will be screened for diseases that are included in the panel of the program. If an infant is positive for any of the diseases following multitiered testing, they will be referred to a ScreenPlus doctor who will conduct confirmatory testing and coordinate their care.

Read more about the diagnosis of LAL-D

In the case of a positive result, the family will be counseled by the investigators, connected with specialists in the area, and offered any available treatments or the opportunity to take part in clinical trials. Families will also be given emotional and social support resources.

Other than LAL-D, the program will screen for acid sphingomyelinase deficiency; neuronal ceroid lipofuscinosis type 2; cerebrotendinous xanthomatosis; Fabry disease; GM1 gangliosidosis; Gaucher disease; metachromatic leukodystrophy; mucopolysaccharidosis II, III-B, IV A, VI, and VII; and Niemann-Pick disease type C.

The study is sponsored by Albert Einstein College of Medicine and is estimated to be completed on July 31, 2026.


ScreenPlus: a comprehensive, flexible, multi-disorder newborn screening program (ScreenPlus). ClinicalTrials.gov. May 10, 2022. Accessed May 17, 2022.