New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy

Corrado Angelini, Claudio Semplicini, Sabrina Ravaglia, Maurizio Moggio, Giacomo P. Comi, Olimpia Musumeci, Elena Pegoraro, Paola Tonin, Massimiliano Filosto, Serenella Servidei, Lucia Morandi, Grazia Crescimanno, Giovanni Marrosu, Gabriele Siciliano, Tiziana Mongini, Antonio Toscano, E. Sette, V. Tugnoli, R. Parini, M. RigoldiM. D. Donati, S. Gasperini, L. Vercelli, E. Barca, R. Di Giacopo, M. B. Pasanisi, B. Bembi, V. Lucchini, R. Piras, G. Ricci, G. Di Iorio, D. Diodato, F. Carubbi, A. Ariatti

Research output: Contribution to journalArticle

Abstract

Introduction: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT). Methods: We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. Results: At baseline, the GSGC score correlated with both WGM (P <0.001, n = 33) and 6MWT (P <0.001, n = 26). After 1 year of ERT, we observed a significant change in gait, stairs and chair performance on the GSGC scale. The 6MWT significantly increased from 319 to 371 meters in 32 patients, and the WGM score was reduced. Conclusions: GSGC is a group of functional tests that requires only a few minutes to perform, therefore, this score might be a good indicator to be used in future studies.

Original languageEnglish
Pages (from-to)831-834
Number of pages4
JournalMuscle and Nerve
Volume45
Issue number6
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Enzyme replacement therapy
  • Glycogen storage type II
  • Outcome measures
  • Protocol
  • Trial

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

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  • Cite this

    Angelini, C., Semplicini, C., Ravaglia, S., Moggio, M., Comi, G. P., Musumeci, O., Pegoraro, E., Tonin, P., Filosto, M., Servidei, S., Morandi, L., Crescimanno, G., Marrosu, G., Siciliano, G., Mongini, T., Toscano, A., Sette, E., Tugnoli, V., Parini, R., ... Ariatti, A. (2012). New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy. Muscle and Nerve, 45(6), 831-834. https://doi.org/10.1002/mus.23340