STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Journal
Journal of Neurology
Date Issued
2021
Author(s)
Gutschmidt K.
Musumeci O.
D?az-Manera J.
Knop K.C.
Wenninger S.
Montagnese F.
Pugliese A.
Tavilla G.
Alonso-P?rez J.
Toscano A.
Schoser B.
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%pred showed the most sustained positive effect (p = 0.304). The MRC%max remained stable with a mild decline (p = 0.131), however, FVC%pred deteriorated significantly (p < 0.001) by 14.93% over 10?years of ERT. The progression rate of FVC%pred 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. ? 2021, The Author(s).
Subjects
Alglucosidase alpha; Efficacy; Enzyme replacement therapy; Glycogen storage disease type 2; Long term follow-up; Pompe disease
SDGs
Other Subjects
alglucosidase alfa; anticoagulant agent; antihistaminic agent; corticosteroid; alpha glucosidase; GAA protein, human; adult; aged; anaphylaxis; antibody titer; Article; bronchospasm; cohort analysis; drug efficacy; drug safety; dyspnea; enzyme replacement; erythema; female; fever; flushing; follow up; forced vital capacity; Germany; glycogen storage disease type 2; human; invasive ventilation; Italy; limited mobility; lung embolism; lung function test; major clinical study; male; multicenter study (topic); muscle strength; nausea and vomiting; proteinuria; quantitative analysis; retrospective study; shivering; side effect; six minute walk test; skin anaphylaxis; Spain; Taiwan; walking; clinical trial; enzyme replacement; multicenter study; treatment outcome; Adult; alpha-Glucosidases; Enzyme Replacement Therapy; Germany; Glycogen Storage Disease Type II; Humans; Italy; Retrospective Studies; Spain; Taiwan; Treatment Outcome
Publisher
Springer Science and Business Media Deutschland GmbH
Type
journal article