title: Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
abstract: OBJECTIVE
  Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.
  
  
  RESULTS
  Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining no improvement of motor functions, four out of the seven (57%) achieving to sit without support, and three out of the nine (33%) being able to walk independently, secondarily deteriorated, and died or became ventilator dependent. Sustained reduction of systolic function despite reversal of cardiac hypertrophy (n = 3), gastroesophageal reflux (n = 5), swallowing difficulties or failure to thrive (n = 11), recurrent pneumonias (n = 14), port system complications (n = 4), anesthesia-related incidents (n = 2), severe allergic reactions (n = 6), hearing loss (n = 3), and orthopedic deformities (n = 4) were problems frequently encountered.
  
  
  CONCLUSIONS
  Although this study has important shortcomings due to its retrospective nature and because important variables potentially influencing outcome were not available for a substantial amount of patients, these data suggest that classical infantile Pompe disease still remains a life-threatening condition associated with high morbidity and often dismal prognosis. Currently, a relevant number of patients do not benefit definitely from ERT.
authors: Department of Child Neurology, University of Giessen, Feulgenstr.12, 35385, Giessen, Germany, Andreas.Hahn@paediat.med.uni-giessen.de.
authors: Andreas
authors: A
authors: Hahn
authors: Susanne
authors: S
authors: Praetorius
authors: Nesrin
authors: N
authors: Karabul
authors: Johanna
authors: J
authors: Dießel
authors: Dorle
authors: D
authors: Schmidt
authors: Reinald
authors: R
authors: Motz
authors: Claudia
authors: C
authors: Haase
authors: Martina
authors: M
authors: Baethmann
authors: Julia B
authors: JB
authors: Hennermann
authors: Martin
authors: M
authors: Smitka
authors: René
authors: R
authors: Santer
authors: Nicole
authors: N
authors: Muschol
authors: Ann
authors: A
authors: Meyer
authors: Thorsten
authors: T
authors: Marquardt
authors: Martina
authors: M
authors: Huemer
authors: Charlotte
authors: C
authors: Thiels
authors: Marianne
authors: M
authors: Rohrbach
authors: Gökce
authors: G
authors: Seyfullah
authors: Eugen
authors: E
authors: Mengel
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