STIG study : real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Gutschmidt, K. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians University Munich)
Musumeci, O. (Department of Clinical and Experimental Medicine. University of Messina)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Chien, Y.H. (Department of Medical Genetics and Pediatrics. National Taiwan University Hospital)
Knop, K.C. (Neurologische Praxis Neuer Wall)
Wenninger, S. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians University Munich)
Montagnese, F. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians University Munich)
Pugliese, A. (Department of Clinical and Experimental Medicine. University of Messina)
Tavilla, G. (Department of Clinical and Experimental Medicine. University of Messina)
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau)
Hwu, P.W.L. (Department of Medical Genetics and Pediatrics. National Taiwan University Hospital)
Toscano, A. (Department of Clinical and Experimental Medicine. University of Messina)
Schoser, B. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians University Munich)

Data:	2021
Resum:	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.
Nota:	Altres ajuts: Projekt DEAL; Sanofi Genzyme.
Drets:	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.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Alglucosidase alpha ; Efficacy ; Enzyme replacement therapy ; Glycogen storage disease type 2 ; Long term follow-up ; Pompe disease
Publicat a:	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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