ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05368038 (ScreenPlus), which is not on this map. Cited by 96 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Who cites it
96 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.Scientific reports · 2021Trial
- Multi-modal recruitment efficiency in ScreenPlus, a large-scale consented pilot NBS program.medRxiv : the preprint server for health sciences · 2026Article
- Patient-Centric Approach to Improve the Quality of Life and Healing Efficacy for Patients With Fabry Disease: A Grounded Theory-Based Analysis.Journal of Korean medical science · 2026Article
- Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit-Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan.International journal of neonatal screening · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.Molecular genetics & genomic medicine · 2026Article
- Human α-galactosidase A is stimulated by folic acid supplementation - possible implications in Fabry disease management.PloS one · 2026Article
- Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.Genetics in medicine open · 2026Article
- Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US.Orphanet journal of rare diseases · 2025Article
- Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.Molecular genetics and metabolism reports · 2025Article
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.Orphanet journal of rare diseases · 2025Article
- Newborn Screening for Gaucher Disease: The New Jersey Experience.International journal of neonatal screening · 2025Article
- Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.Biochemical genetics · 2025Article
- Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.American journal of medical genetics. Part A · 2025Article
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases.Life (Basel, Switzerland) · 2025Review
- Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure.Frontiers in pediatrics · 2025Article
36 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors.
Funding
Abstract
purposeWe conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.
methodsAt five participating high-birth rate, ethnically diverse New York City hospitals, recruiters discussed the study with postpartum parents and documented verbal consent. Screening on consented samples was performed using multiplexed tandem mass spectrometry. Screen-positive infants underwent confirmatory enzymology, DNA testing, and biomarker quantitation when available. Affected infants are being followed for clinical management and long-term outcome.
resultsOver 4 years, 65,605 infants participated, representing an overall consent rate of 73%. Sixty-nine infants were screen-positive. Twenty-three were confirmed true positives, all of whom were predicted to have late-onset phenotypes. Six of the 69 currently have undetermined disease status.
conclusionOur results suggest that NBS for LSDs is much more likely to detect individuals at risk for late-onset disease, similar to results from other NBS programs. This work has demonstrated the feasibility of using a novel consented pilot NBS study design that can be modified to include other disorders under consideration for public health implementation as a means to gather critical evidence for evidence-based NBS practices.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.