STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.
Kristina GutschmidtOlimpia MusumeciJordi Díaz-ManeraYin-Hsiu ChienKarl Christian KnopStephan WenningerFederica MontagneseAlessia PuglieseGraziana TavillaJorge Alonso-PérezPaul Wuh-Liang HwuAntonio ToscanoBenedikt SchoserPublished in: Journal of neurology (2021)
The STIG real-world study confirms an initial efficacy of ERT in the first years with a secondary sustained decline in multiple outcome measures. Further efforts are required to establish a more valid long-term monitoring and improved therapies.