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3-year follow-up data of the Swiss Pompe Registry-analysis of the first 7 patients
T. Hundsberger, O. Scheidegger, D. Leupold, O. Findling, K. M. Roesler
Presentation - Mar 2, 2017
Hundsberger Thomas
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Health-care authority regulations emerged into an academic driven registry for mandatory baseline and 6-months follow-up evaluation of Pompe patients treated with rhGAA in Switzerland. mRS, WGM scale, FSS, Rotterdam 9 item test, MRC sum score, 6-MWT and 10-meter walking tests, FVC upright as well as MIP and SNIP testing for pulmonal function were chosen as appropriate assessments. mRS and WGM scale did not change over time whereas MRC sum score improved in most patients and remained stable thereafter. FVC upright and 6MWT improved over time, whereas SNIP, MIP and 10-meter walking test was roughly stable. Rotterdam 9 item test and FSS
mostly varied from one assessment to the other. Objective and subjective Evaluation in the Swiss Pompe Registry is feasible over time. Most patients remained stable in the core parameters (FVC, MRC and 6MWT) and continuously received ERT.