STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Por:
Gutschmidt, K, Musumeci, O, Diaz-Manera, J, Chien, YH, Knop, KC, Wenninger, S, Montagnese, F, Pugliese, A, Tavilla, G, Alonso-Perez, J, Hwu, PWL, Toscano, A, Schoser, B
Publicada:
1 jul 2021
Ahead of Print:
1 feb 2021
Resumen:
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.
Filiaciones:
Gutschmidt, K:
Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Ziemssenstr 1, D-80336 Munich, Germany
Musumeci, O:
Univ Messina, Dept Clin & Expt Med, Messina, Italy
Diaz-Manera, J:
Hosp La Santa Creu & St Pau, Neuromuscular Dis Unit, Neurol Dept, Barcelona, Spain
Biomed Res Inst St Pau IIB St Pau, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain
Univ Newcastle, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Chien, YH:
Natl Taiwan Univ Hosp, Dept Med Genet & Pediat, Taipei, Taiwan
Knop, KC:
Neurol Praxis Neuer Wall, Hamburg, Germany
Wenninger, S:
Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Ziemssenstr 1, D-80336 Munich, Germany
Montagnese, F:
Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Ziemssenstr 1, D-80336 Munich, Germany
Pugliese, A:
Univ Messina, Dept Clin & Expt Med, Messina, Italy
Tavilla, G:
Univ Messina, Dept Clin & Expt Med, Messina, Italy
Alonso-Perez, J:
Hosp La Santa Creu & St Pau, Neuromuscular Dis Unit, Neurol Dept, Barcelona, Spain
Biomed Res Inst St Pau IIB St Pau, Barcelona, Spain
Hwu, PWL:
Natl Taiwan Univ Hosp, Dept Med Genet & Pediat, Taipei, Taiwan
Toscano, A:
Univ Messina, Dept Clin & Expt Med, Messina, Italy
Schoser, B:
Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Ziemssenstr 1, D-80336 Munich, Germany
hybrid, Green Published
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