Profile

Length of experience


Myozyme® was approved in the EU in 20061

Patient groups


Myozyme® can change the natural history of Pompe disease, for patients regardless of age, gender or symptoms1,4

Early treatment initiation


Early initiation of treatment has been linked to a greater benefit and better clinical outcomes in IOPD and LOPD4,5

Evidence

Myozyme® is indicated for long-term enzyme replacement therapy (ERT) in patients with a confirmed diagnosis of Pompe disease (acid alpha glucosidase deficiency).1

  • Myozyme® stabilises pulmonary function in patients with LOPD6,7

  • Patients treated with Myozyme® maintained improvements from baseline in walking distance, measured by the 6MWT, for up to 104 weeks vs. placebo7,8

    Early initiation of treatment helps improve patients’ walking distance from baseline, potentially maximising their independence vs. placebo7,8

  • ERT results in significant improvements in survival of late-onset Pompe disease patients vs. those not treated with ERT*9

    Observational data found ERT to be associated with a mortality hazard ratio of 0.41 relative to patients not receiving ERT, which is a 59% reduction in the likelihood of death. 28 patients died in the non-ERT group and 18 died in the ERT group.9 This extrapolates to approximately 1 extra year of life for every 8 years of ERT.9 ERT has also been shown to reduce mortality in infantile-onset Pompe disease compared to those not treated with ERT.10

    *International observational study including data from 283 adult patients with Pompe disease9.

    ERT has a positive impact on quality of life in adult patients with Pompe disease compared to baseline11.

  • An international survey* showed that a significant decrease in the physical component summary score of the quality-of-life measure, SF-36, in Pompe disease patients (-0.73 score points per year [sp/y]) before starting ERT11.

    An international survey* showed that a significant decrease in the physical component summary score of the quality-of-life measure, SF-36†, in Pompe disease patients (-0.73 score points per year [sp/y]) before starting ERT.11

    During the first 2 years of ERT, the score increased significantly by 1.49 score points/year [sp/y], and stabilised thereafter (-0.15sp/y; no significant change).11 The mental component summary score was generally stable during the entire follow-up period (no significant changes from pre- to post-ERT).11 The Rotterdam Handicap Scale (RHS) stabilised after treatment with ERT (-0.02 sp/y; CI 95 % -0.17 to 0.13).11
    *International survey of 174 patients, assessed for quality-of-life using the SF-36 instrument, annually between 2002 and 2012; median follow-up time: 4 years (range 0.5-8)11

    †Short Form Health Survey-36 (SF-36) comprising eight domains: physical functioning, role physical, bodily pain, general health, vitality, social functioning, role emotional and mental health11

Long-term benefits of MYOZYME treatment in LOPD

Study design12

A nationwide, prospective study analysed the long-term effects of enzyme replacement therapy (ERT) in 102 Dutch adult patients, ranging in age from 24 to 76 years, with Pompe disease who had not yet received ERT before enrollment on January 1, 2005. If treated, patients received Myozyme® at a dosage of 20 mg/kg every 2 weeks. Pulmonologic data and muscle function were assessed among other variables.

Clinical assessments took place every 3 to 6 months before and after the start of Myozyme; the median overall follow-up duration was 6.1 years and was compared against the natural history course extrapolated data.

  • Distance walked in 6MWT over the course of disease after the start of ERT12

    Maximizing independence in the long term12 reduces risk of wheelchair dependence13

  • Myozyme® can help keep long-term independence possible for adult patients with LOPD12

  • Individual patient response to ERT treatment on the Rasch-built Pompe-specific activity scale (R-PAct)12

    Myozyme® can help keep long-term independence possible for adult patients with LOPD12

In patients with IOPD, Early initiation of Myozyme® improves clinical outcomes in maintaining motor function and prolonging survival versus historical, untreated controls1,14

Kaplan-Meier estimate of time from birth to invasive ventilator use or death14

Mechanism of action

Myozyme® was designed to replace missing or deficient GAA enzyme1,2,3

    1. Myozyme Summary of Product Characteristics. Accessed April 2021.
    2. van der Ploeg AT, et al. Mol Genet Metab. 2016;119(1-2):115-123.
    3. Thurberg BL, et al. Lab Invest. 2006;86(12):1208–1220.
    4. Barba-Romero MA, et al. Rev. Neurol. 2012;54(8):497–507.
    5. Kishnani PS, et al. Genet Med. 2006; 8(5):267–288.
    6. van der Beek NA, et al. Orphanet J Rare Dis. 2012; 7: 88.
    7. van der Ploeg AT, et al. N Engl J Med. 2010;362(15):1396-1406.
    8. van der Ploeg AT, et al. Mol Genet Metab. 2012;107(3):456-461.
    9. Güngör D, et al. Orphanet J Rare Dis. 2013;8:49.
    10. Chen M, et al. Cochrane Database Syst Rev. 2017;11:CD011539.
    11. Güngör D, et al. J Inherit Metab Dis. 2016;39(2):253–260.
    12. Kuperus E, et al. Neurology. 2017;89(23):2365–2373.
    13. van der Meijden JC, et al. Orphanet J Rare Dis. 2018;13(1):82.
    14. Kishnani PS, et al. Neurology. 2007;68(2):99-109.

MAT-GB-2105179 (v2.0)
Date of preparation: August 2022