title: 24-months results in two adults with Pompe disease on enzyme replacement therapy.
abstract: OBJECTIVE
  Late-onset Pompe disease is a slowly progressive disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (alglucosidase alfa) is available but long-term experience with ERT in late-onset Pompe disease is still limited.
  
  
  METHODS
  Two adult patients with impaired walking ability and disease duration of 10 and 13 years, respectively received ERT over a period of 24 months. Clinical and functional parameters including dynamometer-based assessment of proximal muscle strength were registered longitudinally.
  
  
  RESULTS
  In both patients some gain in function and physical endurance could be observed which was collaborated by stable dynamometer tests. No serious adverse events occurred and no patient required de novo ventilation.
  
  
  CONCLUSIONS
  The clinical results from our data base imply that long term enzyme replacement therapy seems to somewhat affect functionality and quality of life and can stabilize the otherwise progressive disease course in patients with late-onset Pompe disease.
authors.affiliation: Department of Neurology, Medical Faculty, Otto-von-Guericke-University, Leipziger Str. 44, D-39120 Magdeburg, Germany. stefan.vielhaber@med.ovgu.de
authors.forename: Stefan
authors.initials: S
authors.lastname: Vielhaber
authors.forename: Andrea
authors.initials: A
authors.lastname: Brejova
authors.forename: Grazyna
authors.initials: G
authors.lastname: Debska-Vielhaber
authors.forename: Joern
authors.initials: J
authors.lastname: Kaufmann
authors.forename: Helmut
authors.initials: H
authors.lastname: Feistner
authors.forename: Mircea A
authors.initials: MA
authors.lastname: Schoenfeld
authors.forename: Friedemann
authors.initials: F
authors.lastname: Awiszus
mesh_terms: D000328:Adult; D017668:Age of Onset; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D056947:Enzyme Replacement Therapy / Q000009:adverse effects; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D007537:Isometric Contraction / Q000502:physiology; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D008603:Mental Health; D053580:Muscle Strength / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination; D010146:Pain / Q000209:etiology; D011788:Quality of Life; D012129:Respiratory Function Tests; D013147:Spirometry; D013848:Thigh / Q000473:pathology; D016896:Treatment Outcome; D016138:Walking / Q000502:physiology; D000520:alpha-Glucosidases / Q000009:adverse effects / Q000627:therapeutic use*
chemical_list: D003402:Creatine Kinase; C509951:GAA protein, human; D000520:alpha-Glucosidases