The benefit of ERT in Pompe disease is confirmed by longitudinal data from the French registry and the international database

Two studies published in June 2020 were based on data from a register and a database set up in Pompe disease, one in France (in 158 adults), the other internationally. (in 396 adults), to assess the long-term effects of treatment with enzyme replacement therapy (ERT). In both cases, the studies confirm the long-term efficacy of the enzyme therapy observed in the Late-Onset Treatment Study (LOTS) after 18 months of treatment in adults with Pompe disease. Thus, it appears that enzyme replacement therapy:

  • improves motor function during the first 3 years of taking treatment (with an improvement in walking distance on the 6-minute walk test) followed by a gradual decline;
  • slows down or stabilizes the progression of respiratory disease over a 5-year follow-up.


Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry. Semplicini C, De Antonio M, Taouagh N, et al. J Inherit Metab Dis. 2020 (Juin).


Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start. Stockton DW, Kishnani P, van der Ploeg A, et al. J Neurol. 2020 (Juin).