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Newborn Screening for Pompe Disease Newborn Screening for Pompe Disease • Wuh-Liang Hwu, Yin-Hsiu Chien and Raymond Wang Newborn Screening for Pompe Disease Edited by Wuh-Liang Hwu, Yin-Hsiu Chien and Raymond Wang Printed Edition of the Special Issue Published in International Journal of Neonatal Screening www.mdpi.com/journal/IJNS Newborn Screening for Pompe Disease Newborn Screening for Pompe Disease Editors Wuh-Liang Hwu Yin-Hsiu Chien Raymond Wang MDPI • Basel • Beijing • Wuhan • Barcelona • Belgrade • Manchester • Tokyo • Cluj • Tianjin Editors Wuh-Liang Hwu Yin-Hsiu Chien Raymond Wang National Taiwan University National Taiwan University Children’s Hospital of Orange Hospital Hospital County Taiwan Taiwan USA Editorial Office MDPI St. Alban-Anlage 66 4052 Basel, Switzerland This is a reprint of articles from the Special Issue published online in the open access journal International Journal of Neonatal Screening (ISSN 2409-515X) (available at: https://www.mdpi.com/ journal/IJNS/special issues/pompe). For citation purposes, cite each article independently as indicated on the article page online and as indicated below: LastName, A.A.; LastName, B.B.; LastName, C.C. Article Title. Journal Name Year, Volume Number, Page Range. ISBN 978-3-0365-0580-0 (Hbk) ISBN 978-3-0365-0581-7 (PDF) Cover image courtesy of the American Academy of Pediatrics. © 2021 by the authors. Articles in this book are Open Access and distributed under the Creative Commons Attribution (CC BY) license, which allows users to download, copy and build upon published articles, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. The book as a whole is distributed by MDPI under the terms and conditions of the Creative Commons license CC BY-NC-ND. Contents About the Editors .............................................. vii Wuh-Liang Hwu and Yin-Hsiu Chien Development of Newborn Screening for Pompe Disease Reprinted from: Int. J. Neonatal Screen. 2020, 6, 5, doi:10.3390/ijns6010005 .............. 1 Joan M. Keutzer Establishing Pompe Disease Newborn Screening: The Role of Industry Reprinted from: Int. J. Neonatal Screen. 2020, 6, 55, doi:10.3390/ijns6030055 ............. 5 Takaaki Sawada, Jun Kido and Kimitoshi Nakamura Newborn Screening for Pompe Disease Reprinted from: Int. J. Neonatal Screen. 2020, 6, 31, doi:10.3390/ijns6020031 ............. 13 Barbara K. Burton, Joel Charrow, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Lauren Hitchins, Rachel Hickey, Katherine M. Christensen, Daniel Groepper, Heather Shryock, Pamela Smith, Rong Shao and Khaja Basheeruddin Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants Reprinted from: Int. J. Neonatal Screen. 2020, 6, 4, doi:10.3390/ijns6010004 .............. 29 Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop and Richard S. Olney The First Year Experience of Newborn Screening for Pompe Disease in California Reprinted from: Int. J. Neonatal Screen. 2020, 6, 9, doi:10.3390/ijns6010009 .............. 37 Can Ficicioglu, Rebecca C. Ahrens-Nicklas, Joshua Barch, Sanmati R. Cuddapah, Brenda S. DiBoscio, James C. DiPerna, Patricia L. Gordon, Nadene Henderson, Caitlin Menello, Nicole Luongo, Damara Ortiz and Rui Xiao Newborn Screening for Pompe Disease: Pennsylvania Experience Reprinted from: Int. J. Neonatal Screen. 2020, 6, 89, doi:10.3390/ijns6040089 ............. 49 Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee and Wuh-Liang Hwu The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan Reprinted from: Int. J. Neonatal Screen. 2020, 6, 30, doi:10.3390/ijns6020030 ............. 67 Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad and Arindam Bhattacharjee Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges Reprinted from: Int. J. Neonatal Screen. 2020, 6, 32, doi:10.3390/ijns6020032 ............. 75 Tracy L. Klug, Lori B. Swartz, Jon Washburn, Candice Brannen and Jami L. Kiesling Lessons Learned from Pompe Disease Newborn Screening and Follow-up Reprinted from: Int. J. Neonatal Screen. 2020, 6, 11, doi:10.3390/ijns6010011 ............. 87 Kshea Hale, Yvonne Kellar-Guenther, Sarah McKasson, Sikha Singh and Jelili Ojodu Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation Reprinted from: Int. J. Neonatal Screen. 2020, 6, 48, doi:10.3390/ijns6020048 ............. 99 v Zoltan Lukacs, Petra Oliva, Paulina Nieves Cobos, Jacob Scott, Thomas P. Mechtler and David C. Kasper At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening Reprinted from: Int. J. Neonatal Screen. 2020, 6, 96, doi:10.3390/ijns6040096 .............107 Raymond Y. Wang A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations Reprinted from: Int. J. Neonatal Screen. 2020, 6, 22, doi:10.3390/ijns6010022 .............115 Raymond Saich, Renee Brown, Maddy Collicoat, Catherine Jenner, Jenna Primmer, Beverley Clancy, Tarryn Holland and Steven Krinks Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective Reprinted from: Int. J. Neonatal Screen. 2020, 6, 1, doi:10.3390/ijns6010001 ..............123 vi About the Editors Wuh-Liang Hwu is a Professor in the Department of Pediatrics at the National Taiwan University Hospital (NTUH) in Taiwan. Professor Hwu completed his medical and PhD degrees at the College of Medicine, National Taiwan University. He completed his residency at NTUH. He has also done a fellowship at the Department of Genetics at Johns Hopkins University and was a Visiting Scientist at the Department of Medical Genetics at Mayo Clinic. He was the Department Head of Medical Genetics at NTUH from 2006 to 2012 and the Inaugural President of the Taiwan Human Genetics Society from 1999 to 2002. He was a Board Member of the Taiwan Foundation for Rare Disorders. Professor Hwu set up the Newborn Screening Program for Pompe Disease in Taiwan, one of the first in the world, and has dedicated much of his research and clinical effort to the diagnosis, management, and gene therapy of patients with rare genetic diseases. His recent interests include employing next-generation sequencing (NGS) and artificial intelligence to facilitate the diagnosis of genetic diseases and related conditions. Yin-Hsiu Chien is a Clinical Professor at the Department of Pediatrics at the National Taiwan University, Taipei, Taiwan, and an Attending Physician of the Department of Medical Genetics and Pediatrics at the National Taiwan University Hospital. She is the Director of the newborn screening center at the National Taiwan University Hospital, which routinely screens around one-third of newborns in Taiwan. Her team, led by Dr Wuh-Liang Hwu, is devoted to the diagnosis and treatment of lysosomal storage diseases, neurotransmitter deficiency, and neuromuscular disorders. Dr Chien’s current work focuses on the early diagnosis and improvement of treatment for Pompe disease, AADC deficiency, spinal muscular atrophy, and other lysosomal storage disorders. Raymond Wang MD, is the Campbell Foundation of Caring Director of the Multidisciplinary Lysosomal Storage Disorder Program at the Children’s Hospital of Orange County in Orange, California. He is a member of the faculty at the Division of Metabolic Disorders at CHOC Children’s Specialists and an Associate Clinical Professor of Pediatrics at UC Irvine Medical School. He oversees clinical care for patients with all lysosomal storage disorders, as well as clinical trials and translational research with the goal of providing patients access to life-saving therapies, and is involved with developing next-generation therapies in the laboratory using gene transfer and CRISPR genome editing. vii International Journal of Neonatal Screening Editorial Development of Newborn Screening for Pompe Disease Wuh-Liang Hwu 1,2,* and Yin-Hsiu Chien 1,2 1 Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan; [email protected] 2 Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan * Correspondence: [email protected] Received: 28 December 2019; Accepted: 22 January 2020; Published: 24 January 2020 Pompe disease is an inborn error of lysosomal degradation of glycogen. The responsible enzyme is acid alpha-glucosidase (GAA). In the severe form of the disease, or infantile-onset Pompe disease (IOPD), weakness in the skeletal and cardiac muscles soon leads to both respiratory and cardiac failure, and death usually occurs before the age of one year. In 2006, the US Food and Drug Administration (FDA) approved Myozyme, the first drug for Pompe disease [1]. My group at the National Taiwan University Hospital (NTUH) joined the phase III clinical trial. A few patients in Taiwan were closely followed before and after they were enrolled in the trial, or an expanded-use program [2]. One patient underwent two muscle biopsies before starting treatment, and had another two biopsies thereafter. We observed progressive degeneration of the patient’s muscles. Debris-like materials filled almost all of the spaces in the myocytes in the last biopsy. Clinically, the patient gradually lost all motor abilities. We were shocked by the irreversible nature of the skeletal muscle
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