Related Experiment Video
Updated: Nov 28, 2025
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
Elizabeth G Ames1, Rachel Fisher1, Mary Kleyn2
1Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA.
Insights
Most US states do not yet screen newborns for Pompe disease and Mucopolysaccharidosis type I (MPSI), but adoption is increasing. This study surveyed states on screening methods and follow-up data collection for these lysosomal storage disorders (LSDs).
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI), were added to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016.
- Current screening practices for these LSDs vary significantly among US states regarding analytes and follow-up data collection.
- Standardized screening and follow-up protocols are essential for evaluating the efficacy of newborn screening (NBS) for LSDs.
Purpose of the Study:
- To evaluate the current practices of US state health departments in screening for Pompe disease and MPSI.
- To assess the methods used for primary and reflex analyte testing in newborn screening for these LSDs.
- To identify the data elements collected for short- and long-term follow-up of positive newborn screens for Pompe disease and MPSI.
Main Methods:
- A nationwide online survey and phone questionnaire were administered to all 50 US states.
- Data collected focused on state-specific newborn screening (NBS) methodologies for Pompe disease and MPSI.
- Inquiries were made regarding the types of biochemical or molecular analytes used and follow-up data elements.
Main Results:
- As of March 2020, the majority of US states were not screening for Pompe disease and MPSI.
- Survey results indicate an anticipated increase, with 38 states planning to implement screening within 1-3 years.
- The study identified diverse data elements currently used by states for follow-up of positive LSD newborn screens.
Conclusions:
- There is a significant gap in current newborn screening (NBS) coverage for Pompe disease and MPSI across the US.
- The anticipated expansion of NBS for these LSDs highlights the need for standardized screening and follow-up protocols.
- The identified follow-up data elements can inform the development of common data standards for public health analyses of NBS benefits.
Abstract:
Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state's practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1-3 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI.
