Pompe Publications

This resource provides publications and guidance on Pompe disease to support newborn screening programs and healthcare professionals.

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement: This closed-access article gives an introduction to newborn screening (NBS) and lysosomal storage disorders (LSDs), specifically in regard to Pompe Disease.

Newborn Screening (NBS) for Pompe Disease: In this closed-access article, the Pompe Disease Newborn Screening (NBS) Working Group, an international group of experts in both NBS and Pompe disease, reviews the methods used for NBS for Pompe disease and summarizes the results of current and ongoing NBS programs in the United States and other countries.

The Initial Evaluation of Patients After Positive Newborn Screening (NBS): Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease: This closed-access article provides recommendations for confirmatory testing after a positive newborn screening (NBS) result indicative of Pompe disease is attained.

Management of Confirmed Newborn-Screened Patients with Pompe Disease Across the Disease Spectrum: The Pompe Disease Newborn Screening Working Group identified key considerations before starting and during ERT; summarized what comprises an indication to start ERT; and provided guidance on how to determine appropriate patient management and monitoring and guide the frequency and type of follow-up assessments for all patients identified with Pompe through newborn screening. This publication is closed access. To view the abstract, click here. 

The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening (NBS): This article is a closed-access publication. It was derived from expert consensus from the Pompe Disease Newborn Screening (NBS) Working Group, and is intended to help guide genetic counseling efforts and provide a clear understanding of the role for families or carriers of Pompe disease identified through NBS; explain special considerations (e.g., diagnosis of late-onset Pompe disease before the appearance of symptoms) and the impact and implications associated with a diagnosis (e.g., determination of genetic risk and carrier status and preconception counseling); and provide health care teams caring for patients with a framework for a standardized approach to genetic counseling for patients and at-risk family members.