STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Open Access
- 5 February 2021
- journal article
- research article
- Published by Springer Science and Business Media LLC in Zeitschrift für Neurologie
- Vol. 268 (7), 2482-2492
- https://doi.org/10.1007/s00415-021-10409-9
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.Keywords
Funding Information
- Sanofi Genzyme
- Projekt DEAL
This publication has 31 references indexed in Scilit:
- Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training programOrphanet Journal of Rare Diseases, 2015
- Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since BirthThe Journal of Pediatrics, 2015
- A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement TherapyMolecular Therapy, 2014
- The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?Orphanet Journal of Rare Diseases, 2013
- Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center studyOrphanet Journal of Rare Diseases, 2012
- Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe diseaseMolecular Genetics and Metabolism, 2011
- Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapyOrphanet Journal of Rare Diseases, 2011
- A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's DiseaseThe New England Journal of Medicine, 2010
- ATS StatementAmerican Journal of Respiratory and Critical Care Medicine, 2002
- The frequency of lysosomal storage diseases in The NetherlandsHuman Genetics, 1999