STIG study: Real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

J Neurol 2021 Jul;268(7):2482-2492. doi: 10.1007/s00415-021-10409-9.

PMID: 33543425

Kristina Gutschmidt, Olimpia Musumeci, Jordi Díaz-Manera

Highlights: The goal of this study is to determine alglucosidase alfa's long-term effectiveness and safety in the real world.

Abstract

Background: Since 2006, there has been an authorized medication therapy for Pompe disease, making it one of the rare neuromuscular diseases having an approved treatment option. Our goal was to determine alglucosidase alfa's long-term effectiveness and safety in the real world.

Methods: This multicenter retrospective study (NCT02824068) gathered information from adult Pompe disease patients who had been treated with ERT for at least three years. Once a year, demographics and baseline characteristics, muscle strength, lung function (FVC), walking ability (6MWT), and safety were evaluated. Quantitative linear models (t test) and general univariate linear models were used to evaluate the group and individual levels (ANOVA).

Findings: A total of 68 adult patients with Pompe disease from four countries (Spain, Taiwan, Italy, and Germany (STIG)) took part in the study. The mean follow-up was 7.03 years ± 2.98. All outcome measures showed an initial improvement followed by a subsequent deterioration at the group level. The 6MWT%pred exhibited the most sustained positive effect (p = 0.304) after ten years. Over 10 years of ERT, the MRC%max remained stable with a little decline (p = 0.131), while the FVC%pred deteriorated considerably (p 0.001) by 14.93 percent. The disease severity at baseline might explain the progression rate of FVC%pred under ERT in the majority of patients (83.5%). Furthermore, our research reveals that in adult Pompe disease patients, the FVC decreases over time, while non-invasive and invasive ventilation needs rise.

Conclusions: The STIG real-world research supports ERT's initial effectiveness in the first years, followed by a subsequent, continuous drop in a variety of outcome measures. More effort is necessary to create a more reliable long-term monitoring system and better treatments.

Keywords: Pompe, Alglucosidase alpha, Enzyme replacement therapy, Glycogen storage disease type 2