title: Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
abstract: OBJECTIVE
  To evaluate whether very early treatment in our patients would result in better clinical outcomes and to compare these data with other infantile-onset Pompe disease (IOPD) cohort studies.
  
  
  METHODS
  In this nationwide program, 669,797 newborns were screened for Pompe disease. We diagnosed IOPD in 14 of these newborns, and all were treated and followed in our hospital.
  
  
  RESULTS
  After 2010, the mean age at first enzyme-replacement therapy (ERT) was 11.92 days. Our patients had better biological, physical, and developmental outcomes and lower anti-rh acid α-glucosidase antibodies after 2 years of treatment, even compared with one group that began ERT just 10 days later than our cohort. No patient had a hearing disorder or abnormal vision. The mean age for independent walking was 11.6 ± 1.3 months, the same age as normal children.
  
  
  CONCLUSIONS
  ERT for patients with IOPD should be initiated as early as possible before irreversible damage occurs. Our results indicate that early identification of patients with IOPD allows for the very early initiation of ERT. Starting ERT even a few days earlier may lead to better patient outcomes.
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Environmental and Occupational Health Sciences, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Chia-Feng
authors.initials: CF
authors.lastname: Yang
authors.affiliation: Institute of Environmental and Occupational Health Sciences, National Yang-Ming University, Taipei, Taiwan; Division of Clinical Toxicology & Occupational Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Chen Chang
authors.initials: CC
authors.lastname: Yang
authors.affiliation: The Chinese Foundation of Health Neonatal Screening Center, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Hsuan-Chieh
authors.initials: HC
authors.lastname: Liao
authors.affiliation: Division of Nephrology, Department of Internal Medicine, Taipei City Hospital-Heping Fuyou Branch, Taipei, Taiwan.
authors.forename: Ling-Yi
authors.initials: LY
authors.lastname: Huang
authors.affiliation: The Chinese Foundation of Health Neonatal Screening Center, Taipei, Taiwan.
authors.forename: Chuan-Chi
authors.initials: CC
authors.lastname: Chiang
authors.affiliation: Taipei Institute of Pathology, Taipei, Taiwan.
authors.forename: Hui-Chen
authors.initials: HC
authors.lastname: Ho
authors.affiliation: Physical Medicine and Rehabilitation Department, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Chih-Jou
authors.initials: CJ
authors.lastname: Lai
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Tzu-Hung
authors.initials: TH
authors.lastname: Chu
authors.affiliation: Physical Medicine and Rehabilitation Department, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Tsui-Feng
authors.initials: TF
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Ting-Rong
authors.initials: TR
authors.lastname: Hsu
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Wen-Jue
authors.initials: WJ
authors.lastname: Soong
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: dmniu1111@yahoo.com.tw.
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
mesh_terms: D015331:Cohort Studies; D061345:Early Medical Intervention; D056947:Enzyme Replacement Therapy; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000627:therapeutic use*; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D005087:Glucan 1,4-alpha-Glucosidase