%0 Journal Article %J J Inherit Metab Dis %D 2010 %T Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. %A Bembi, Bruno %A Pisa, Federica Edith %A Confalonieri, Marco %A Ciana, Giovanni %A Fiumara, Agata %A Parini, Rossella %A Rigoldi, Miriam %A Moglia, Arrigo %A Costa, Alfredo %A Carlucci, Annalisa %A Danesino, Cesare %A Pittis, Maria Gabriela %A Dardis, Andrea %A Ravaglia, Sabrina %K Adolescent %K Adult %K Age of Onset %K Aged %K alpha-Glucosidases %K Child %K Enzyme Replacement Therapy %K Female %K Follow-Up Studies %K Glycogen Storage Disease Type II %K Humans %K Male %K Middle Aged %K Observation %K Time Factors %K Treatment Outcome %K Young Adult %X

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 pCO(2)), 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 pCO(2) decreased (p = 0.017). Muscle enzymes decreased significantly (p < 0.0001). Two patients (8%) showed transient secondary events during ERT.

CONCLUSIONS: Long-term ERT with rhGAA was shown to be safe, well tolerated, and effective in improving motor function and in stabilizing respiratory function in late-onset GSDII. The response pattern showed a progressive clinical improvement during the follow-up period in juvenile patients, while in adults it reached and maintained a plateau after the first year of treatment.

%B J Inherit Metab Dis %V 33 %P 727-35 %8 2010 Dec %G eng %N 6 %1 http://www.ncbi.nlm.nih.gov/pubmed/20838899?dopt=Abstract %R 10.1007/s10545-010-9201-8