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Background: Enzyme replacement therapy (ERT) with rhGAA (recombinant human alglucosidase alfa) in Pompe`s disease is moderately effective and a life-long therapy is warranted. Clinical investigations of temporarily ERT interruption are lacking, but might be of clinical significance (i.e. due to patient wish, adherence issues, holidays or problems with drug supply). In Switzerland, ERT for Pompe`s disease was interrupted after the federal court judged that the treatment costs for adults were greatly out of proportion. Re-treatment was initiated after therapy was finally licensed.
Methods: We retrospectively analyzed seven Pompe patients, who underwent cessa-tion and resuming of ERT (median age; 43 years). The delay from first symptoms to final diagnosis ranged from 4-20 years. Before ERT, all patients suffered from a limb-girdle myopathy; one was wheelchair-bound and two patients received night-time non-invasive ventilation. The demographics, clinical characteristics, assessments with the 6-minute walking test (6-MWT), MRC muscle sum score and the predicted forced vital capacity (FVC) were analyzed.
Results: Initial treatment stabilized respiratory function in most patients and improved walking performance. The median duration of treatment withdrawal was 10.6 months (range 3.1 to 59.3). Afterwards FVC declined in most and the 6-MWT declined in all patients. Two patients needed additional non-invasive ventilatory support. Twelve months after ERT re-treatment respiratory and walking capacity improved in most patients. Aside for one patient each, none of the patients reached the levels of respiratory function and walking capacity at the time of ERT withdrawal.
Conclusions: Long-term interruption (> 3 months) of ERT in Pompe`s disease causes a decline in clinical function. Resuming treatment only partially recovers respiratory function and walking capacity. These should be taken into account when ERT is inter-rupted for whatever reason.