title: 36 months observational clinical study of 38 adult Pompe  disease patients under alglucosidase alfa enzyme  replacement therapy.
abstract: OBJECTIVE
  Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span.
  
  
  METHODS
  We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4- stair climb tests, modified Gowers' maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 selfreporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT.
  
  
  RESULTS
  In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p=0.006), remaining at 356.4 ± 155.9 m at 24 months (p=0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p=0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05%after 36 months. Only mean CK levels were significantly decreased by 8.8% (p=0.041). All other tests were statistically nonsignificant changed.
  
  
  CONCLUSIONS
  Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT.
authors.affiliation: Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany.
authors.forename: Caroline
authors.initials: C
authors.lastname: Regnery
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kornblum
authors.forename: Frank
authors.initials: F
authors.lastname: Hanisch
authors.forename: Stefan
authors.initials: S
authors.lastname: Vielhaber
authors.forename: Nicola
authors.initials: N
authors.lastname: Strigl-Pill
authors.forename: Birgit
authors.initials: B
authors.lastname: Grunert
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Müller-Felber
authors.forename: Franz Xaver
authors.initials: FX
authors.lastname: Glocker
authors.forename: Matthias
authors.initials: M
authors.lastname: Spranger
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D003402:Creatine Kinase / Q000378:metabolism; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000201:enzymology / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012129:Respiratory Function Tests / Q000379:methods; D016896:Treatment Outcome; D016138:Walking; D000520:alpha-Glucosidases / Q000009:adverse effects / Q000627:therapeutic use*
chemical_list: D003402:Creatine Kinase; C509951:GAA protein, human; D000520:alpha-Glucosidases