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Cipaglucosidase alfa with miglustat for treating late-onset Pompe disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Cipaglucosidase alfa with miglustat for treating late-onset Pompe disease

Pompe disease is a rare, inherited lysosomal disease caused by a deficiency of the enzyme alpha-glucosidase (GAA), which leads to accumulation of glycogen in various tissues

  • originally described by PJ Pompe, a Dutch pathologist, in 1932
  • first recognized lysosomal storage disease and is the only glycogen storage disease that is also a lysosomal storage disease

Pompe disease is classified into infantile- and late-onset subtypes according to age at symptom onset

  • classic infantile form of Pompe disease is characterized by a severe, progressive and rapidly fatal course
  • late-onset Pompe disease is characterized by progressive weakness in the axial, limb-girdle, and respiratory muscles, resulting in motor and respiratory problem

The first approved treatment for Pompe disease, the enzyme replacement therapy (ERT) alglucosidase alfa, has been shown to slow disease progression and improve quality of life (QOL) (1)

Cipaglucosidase alfa:

  • is a recombinant human acid GAA
  • in March 2023 received its first approval in the EU for use in combination with miglustat for the treatment of adults with late-onset Pompe disease
  • standard treatment for late-onset Pompe disease is enzyme replacement therapy (ERT) with alglucosidase alfa (ALGLU) or avalglucosidase alfa (AVAL). Cipaglucosidase alfaplus miglustat is an alternative ERT (2)
  • NICE state that:
    • Cipaglucosidase alfa (CIPA) plus miglustat is recommended, within its marketing authorisation, as an option for treating late-onset Pompe disease in adults. It is recommended only if the company provides it according to the commercial arrangement.
    • the NICE committee noted that:
      • "... results of clinical trials show that CIPA plus miglustat seems to improve walking and breathing compared with ALGLU in the short term, but the long-term effects are uncertain..."


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