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).