Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.

Both authors are members of the Pompe Disease Newborn Screening Working Group and have experience in newborn screening and in treating and caring for patients with Pompe disease; and both authors provided input and reviewed and approved the content for all articles of the supplement. DOI: https:// doi. org/ 10. 1542/ peds. 20160280B Accepted for publication Mar 8, 2017 Address correspondence to Priya S. Kishnani, MD, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 595 LaSalle St, Durham, NC 27710. E-mail: [email protected] PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). Copyright © 2017 by the American Academy of Pediatrics FINANCIAL DISCLOSURE: The authors have indicated they have no fi nancial relationships relevant to this article to disclose. FUNDING: Sanofi Genzyme (Cambridge, MA) facilitated and provided fi nancial support for the meeting of the Pompe Disease Newborn Screening Working Group to discuss and develop the recommendations provided in all articles comprising the Newborn Screening, Diagnosis, and Treatment for Pompe Disease guidance supplement and also paid for editorial and writing support for this supplement. The recommendations and opinions expressed in this article and in all others in the Supplement are those of the authors based on their clinical expertise and experience and do not necessarily refl ect those of Sanofi Genzyme. POTENTIAL CONFLICT OF INTEREST: Dr Kishnani received consulting fees, honoraria, and/or research funding from Sanofi Genzyme, Amicus Therapeutics, Baebies, Shire Pharmaceuticals, Alexion, and the Lysosomal Disease Network and is a member of the Pompe and Gaucher Disease Registry Advisory Boards for Sanofi Genzyme; and Dr Hwu received research grants and consultation fees from Sanofi Genzyme. Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. 1 The original goal of NBS was to screen newborns for conditions that could benefit from presymptomatic treatment and therefore reduce associated morbidity and mortality. As new methods became available that allowed for better screening of newborns (eg, tandem mass spectrometry), the scope of NBS broadened and the number of disorders included in NBS programs increased significantly. 1, 2