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Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in Pompe disease is moderately effective and a life-long therapy is warranted. Clinical investigations of temporary ERT interruption are lacking, but might be of clinical signifi cance (i.e. due to patient’s wish, adherence issues, holidays, or problems with drug supply). In Switzerland, ERT for Pompe disease was interrupted after the federal court judged that the treatment costs for adults were greatly out of proportion. Retreatment was initiated after therapy was fi nally licensed.

Long-Term Interruption of Enzyme Replacement Therapy with rhGAA in Pompe Disease Leads to Irreversible Clinical Decline