Pompe disease (GSD type II): enzyme replacement therapy (ERT)

Evidence-based neurology checklist on pompe disease (gsd type ii): enzyme replacement therapy (ert): Alglucosidase alpha It is recommended only for symptomatic adult-onset subjects This is beneficial in adult Pompe disease It may benefit subjects with advanced disease It improves muscle strength…

Alglucosidase alpha

  • It is recommended only for symptomatic adult-onset subjects
  • This is beneficial in adult Pompe disease
  • It may benefit subjects with advanced disease
  • It improves muscle strength and stabilises or improves pulmonary function
  • It improves quality of life and improves survival
  • The improvement is however not sustained beyond 36 months
  • It has been used successfully through pregnancy
  • It does not prevent slowly progressive white matter abnormalities
  • Its efficacy is impaired by Propranolol
  • Adjunctive Salbutamol gives little additional benefit

Cipaglucosidase alfa

Avalglucosidase alfa

References

  1. Schoser B, Stewart A, Kanters S, et al. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol 2017; 264:621-630. 
  2. Ripolone M, Violano R, Ronchi D, et al. Effects of short-to-long term Enzyme Replacement Therapy (ERT) on skeletal muscle tissue in Late Onset Pompe disease (LOPD). Neuropathol Appl Neurobiol 2017; doi: 10.1111/nan.12414 (Epub ahead of print).
  3. van der Ploeg AT, Kruijshaar ME, Toscano A, et al; European Pompe Consortium. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 2017; 24:768-e31. 
  4. Güngör D, Kruijshaar ME, Plug I, et al. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis 2016; 39:253-260.
  5. Stepien KM, Hendriksz CJ, Roberts M, Sharma R. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. Mol Genet Metab 2016; 117:413-418. 
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