STIG study : real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Gutschmidt, Kristina (Friedrich-Baur-Institute. Ludwig-Maximilians University Munich (Múnic, Alemanya))
Musumeci, Olimpia (University of Messina (Messina, Itàlia))
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Chien, Yin-Hsiu (National Taiwan University Hospital (Taipei, Taiwan))
Knop, Karl Christian (Neurologische Praxis Neuer Wall (Hamburg, Alemanya))
Wenninger, Stephan (Friedrich-Baur-Institute. Ludwig-Maximilians University Munich (Múnic, Alemanya))
Montagnese, Federica (Friedrich-Baur-Institute. Ludwig-Maximilians University Munich (Múnic, Alemanya))
Pugliese, Alessia (University of Messina (Messina, Itàlia))
Tavilla, Graziana (University of Messina (Messina, Itàlia))
Alonso Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau)
Hwu, Wuh-Liang (National Taiwan University Hospital(Taipei, Taiwan))
Toscano, Antonio (University of Messina (Messina, Itàlia))
Schoser, Benedikt (Friedrich-Baur-Institute. Ludwig-Maximilians University Munich (Múnic, Alemanya))

Date:	2021
Abstract:	Background: Pompe disease is one of the few neuromuscular diseases with an approved drug therapy, which has been available since 2006. Our study aimed to determine the real-world long-term efficacy and safety of alglucosidase alfa. Methods: This multicenter retrospective study (NCT02824068) collected data from adult Pompe disease patients receiving ERT for at least 3 years. Demographics and baseline characteristics, muscle strength, lung function (FVC), walking capability (6MWT), and safety were assessed once a year. Evaluation was done on the group and individual levels, using quantitative linear models (t test) and general univariate linear models (ANOVA). Findings: Sixty-eight adult Pompe disease patients from four countries (Spain, Taiwan, Italy, Germany (STIG)) participated. The mean follow-up was 7. 03 years ± 2. 98. At group level in all outcome measures, an initial improvement followed by a secondary decline was observed. After 10 years, the 6MWT showed the most sustained positive effect (p = 0. 304). The MRC remained stable with a mild decline (p = 0. 131), however, FVC deteriorated significantly (p < 0. 001) by 14. 93% over 10 years of ERT. The progression rate of FVC under ERT could be explained in most of the patients (83. 5%) by the disease severity at baseline. Furthermore, our study shows a decline in the FVC combined with an increase in non-invasive and invasive ventilation requirements in adult Pompe disease patients over time. Conclusions: 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.
Note:	Altres ajuts: Projekt DEAL; Sanofi Genzyme.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Alglucosidase alpha ; Efficacy ; Enzyme replacement therapy ; Glycogen storage disease type 2 ; Long term follow-up ; Pompe disease
Published in:	Journal of neurology, Vol. 268 Núm. 7 (july 2021) , p. 2482-2492, ISSN 1432-1459

DOI: 10.1007/s00415-021-10409-9
PMID: 33543425

11 p, 1.0 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
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