Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

Bruno Bembi, Federica Edith Pisa, Marco Confalonieri, Giovanni Ciana, Agata Fiumara, Rossella Parini, Miriam Rigoldi, Arrigo Moglia, Alfredo Costa, Annalisa Carlucci, Cesare Danesino, Maria Gabriela Pittis, Andrea Dardis, Sabrina Ravaglia

Research output: Contribution to journalArticle

Abstract

Objectives: Type II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase (rhGAA) has been demonstrated to be effective in the treatment of infantile forms of GSDII, but little information is available concerning late-onset phenotypes. Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII. Methods: Twenty-four patients, including 7 juveniles and 17 adults, received bi-weekly infusion of rhGAA (20 mg/kg) for at least 36 months. Clinical conditions, muscular function (6-min walking test, 6MWT; Walton scale, WS), respiratory function (vital capacity, VC; forced expiratory volume, FEV1; arterial pCO2), and muscle enzymes were assessed every 6 months. Results: The 6MWT improved in both juvenile and adult patients (p=0.01, p=0.0002, respectively), as well as in patients with moderate to severe muscle function impairment (WS>3.5; p=0.002). An overall improvement in WS was also observed (p=0.0003). VC and FEV1 remained unchanged, while pCO2 decreased (p=0.017). Muscle enzymes decreased significantly (p

Original languageEnglish
Pages (from-to)727-735
Number of pages9
JournalJournal of Inherited Metabolic Disease
Volume33
Issue number6
DOIs
Publication statusPublished - Dec 2010

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Bembi, B., Pisa, F. E., Confalonieri, M., Ciana, G., Fiumara, A., Parini, R., Rigoldi, M., Moglia, A., Costa, A., Carlucci, A., Danesino, C., Pittis, M. G., Dardis, A., & Ravaglia, S. (2010). Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. Journal of Inherited Metabolic Disease, 33(6), 727-735. https://doi.org/10.1007/s10545-010-9201-8