Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany

• DOI: 10.1007/8904_2014_392
• Publication Date: 2015-01-27T05:11:30Z
• Authors: Andreas Hahn; Susanne Praetorius; Nesrin Karabul; Johanna Dießel; Dorle Schmidt; Reinald Motz; Claudia Haase; Martina Baethmann; Julia B. Hennermann; Martin Smitka; René Santer; Nicole Muschol; Ann Meyer; Thorsten Marquardt; Martina Huemer; Charlotte Thiels; Marianne Rohrbach; Gökce Seyfullah; Eugen Mengel
• Keywords: 0301 basic medicine; 2712 Endocrinology, Diabetes and Metabolism; 03 medical and health sciences; 10036 Medical Clinic; 2724 Internal Medicine; 610 Medicine & health; 1301 Biochemistry, Genetics and Molecular Biology (miscellaneous); 3. Good health

Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was assess mortality, morbidity, and shortcomings ERT a larger cohort patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data all 23 subjects with disease having started Germany between January 2003 December 2010.Ten (43%) deceased four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven achieved free sitting, nine (39%) gained walking. Besides (100%) attaining improvement functions, out (57%) achieving sit without support, three (33%) being able walk independently, secondarily deteriorated, died or Sustained reduction systolic function despite reversal cardiac hypertrophy (n = 3), gastroesophageal reflux 5), swallowing difficulties failure thrive 11), recurrent pneumonias 14), port system complications 4), anesthesia-related incidents 2), severe allergic reactions 6), hearing loss orthopedic deformities 4) were problems frequently encountered.Although important due its retrospective nature because variables potentially influencing not available for substantial amount patients, these suggest that still remains life-threatening condition associated high morbidity often dismal prognosis. Currently, relevant number do benefit definitely from ERT.