Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth
Journal
Journal of Pediatrics
Journal Volume
166
Journal Issue
4
Pages
985-991
Date Issued
2015
Author(s)
Tsai, Fuu-Jen
Tsai, Wen-Hui
Huang, Hsiang-Ju
Abstract
Objective To determine the benefit of newborn screening for the long-term prognosis of patients with classic infantile-onset Pompe disease (IOPD). Study design A cohort of patients with classic IOPD were diagnosed by newborn screening, treated with recombinant human acid a-glucosidase (rhGAA), and followed prospectively. Outcome measurements included survival, left ventricular mass, serum creatinine kinase, motor function, mental development, and systemic manifestations. Results Ten patients who presented with left ventricular hypertrophy at diagnosis received rhGAA infusions starting at a median age of 16 days (6-34 days). All patients were cross-reactive immunologic material-positive. After a median treatment time of 63 months (range 28-90 months), all could walk independently, and none required mechanical ventilation. All patients had motor capability sufficient for participating in daily activities, but muscle weakness over the pelvic girdle appeared gradually after 2 years of age. Ptosis was present in one-half of the patients, and speech disorders were common. Anti-rhGAA antibody titers were low (median maximal titer value 1:1600, range: undetectable - 1:12 800). Conclusion By studying patients treated since birth who have no significant anti-rhGAA antibody interference, this prospective study demonstrates that the efficacy of rhGAA therapy is high and consistent for the treatment of classic IOPD. This study also exposes limitations of rhGAA treatment. The etiology of the manifestations in these early-treated patients will require further study. Copyright ? 2015 Elsevier Inc. All rights reserved.
SDGs
Other Subjects
creatine kinase; immunoglobulin G; recombinant glucan 1,4 alpha glucosidase; alpha glucosidase; GAA protein, human; recombinant protein; antibody titer; Article; artificial ventilation; child; clinical article; cognition; cohort analysis; controlled study; creatine kinase blood level; cyanosis; drug efficacy; enzyme replacement; glycogen storage disease type 2; hearing impairment; heart function; heart left ventricle hypertrophy; heart left ventricle mass; human; infant; infantile onset Pompe disease; infantile onset Pompe disease; mental development; motor development; motor performance; muscle weakness; myopia; neuroimaging; newborn; newborn screening; nuclear magnetic resonance imaging; onset age; outcome assessment; positive end expiratory pressure; preschool child; priority journal; prognosis; prospective study; ptosis; respiratory distress; secretory otitis media; survival; treatment response; white matter lesion; comparative study; female; follow up; Glycogen Storage Disease Type II; incidence; male; newborn screening; onset age; procedures; prognosis; survival rate; Taiwan; time; trends; Age of Onset; alpha-Glucosidases; Female; Follow-Up Studies; Glycogen Storage Disease Type II; Humans; Incidence; Infant; Infant, Newborn; Male; Neonatal Screening; Prognosis; Prospective Studies; Recombinant Proteins; Survival Rate; Taiwan; Time Factors
Publisher
Mosby Inc.
Type
journal article