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Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation
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Establishing Pompe Disease Newborn Screening: The Role of Industry

Sanofi Genzyme, Cambridge, MA 02142, USA
Int. J. Neonatal Screen. 2020, 6(3), 55;
Received: 22 May 2020 / Revised: 29 June 2020 / Accepted: 3 July 2020 / Published: 5 July 2020
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter paper were developed in an international collaborative research effort led by Genzyme. Both methods were used successfully in NBS pilot programs to demonstrate the feasibility of NBS for Pompe disease. Since 2009, all babies born in Taiwan have been screened for Pompe disease. Pompe disease was added to the Recommended Uniform (Newborn) Screening Panel in the United States in 2015. NBS for Pompe disease is possible because of the unprecedented and selfless collaborations of countless international experts who shared their thoughts and data freely with the common goal of establishing NBS for Pompe disease expeditiously. View Full-Text
Keywords: newborn screening; Pompe disease; acid α-glucosidase newborn screening; Pompe disease; acid α-glucosidase
MDPI and ACS Style

Keutzer, J.M. Establishing Pompe Disease Newborn Screening: The Role of Industry. Int. J. Neonatal Screen. 2020, 6, 55.

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