Although phase III trials (the COMET and PROPEL trials) have demonstrated the efficacy of next-generation enzyme therapies – avalglucosidase alfa (Nexviadyme®) and cipaglucosidase alfa (Pombiliti®) – in Pompe disease, real-world data remain limited.
A prospective study conducted at five centres in Germany, where both treatments are available, analysed data from 39 adults with late-onset Pompe disease who switched from alglucosidase alfa (Myozyme®) to one of the two new therapies.
- Respiratory function remained stable and walking tests showed no significant decline up to two years after switching enzyme replacement therapy, suggesting that switching may be a useful strategy, particularly in cases of efficacy issues.
- Serious or injection-related adverse events were rare.
- However, interpretation of the results was severely limited by incomplete follow-up data, particularly beyond one year.
- Adherence to the European Pompe Consortium (EPOC) assessment guidelines was variable, which introduced heterogeneity and complicated comparisons between centres.
Systematic long-term data collection via patient registries and standardised assessments will be essential for better identifying the patients most likely to benefit from a change in treatment.
Voir aussi « Maladie de pompe à début tardif : un changement d’enzymothérapie est possible »
