@article{2997232,
    title = "Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience",
    author = "Papadimas, G.K. and Anagnostopoulos, C. and Xirou, S. and Michelakakis, H. and Terzis, G. and Mavridou, I. and Kararizou, E. and Papadopoulos, C.",
    journal = "Neuromuscular Disorders",
    year = "2021",
    volume = "31",
    number = "2",
    pages = "91-100",
    publisher = "Elsevier Ireland Ltd",
    issn = "0960-8966",
    doi = "10.1016/j.nmd.2020.12.001",
    keywords = "alglucosidase alfa;  alpha glucosidase, adolescent;  adult;  Article;  child;  clinical article;  clinical effectiveness;  clinical outcome;  cohort analysis;  drug dose increase;  drug safety;  drug tolerability;  enzyme replacement;  female;  fibroblast;  forced vital capacity;  glycogen storage disease type 2;  Greece;  human;  human cell;  long term care;  longitudinal study;  male;  Medical Research Council Grading Scale;  motor performance;  muscle strength;  onset age;  prognostic assessment;  pruritus;  rating scale;  retrospective study;  six minute walk test;  spirometry;  therapy delay;  aged;  enzyme replacement;  glycogen storage disease type 2;  middle aged;  procedures;  treatment outcome;  walk test;  young adult, Adolescent;  Adult;  Aged;  alpha-Glucosidases;  Cohort Studies;  Enzyme Replacement Therapy;  Female;  Glycogen Storage Disease Type II;  Greece;  Humans;  Longitudinal Studies;  Male;  Middle Aged;  Muscle Strength;  Spirometry;  Treatment Outcome;  Walk Test;  Young Adult",
    abstract = "Late onset Pompe disease (LOPD) is a slowly progressive metabolic myopathy with variable clinical severity. The advent of enzyme replacement therapy (ERT) has modified the natural course of the disease, though the treatment effect on adult patients is modest compared to infants with the classic form. This study aims to describe the long-term clinical outcome of the Greek LOPD cohort, as assessed by 6 min walk test, muscle strength using MRC grading scale and spirometry. ERT efficacy was estimated using statistical methodology that is novel in the context of Pompe disease, which at the same time is well-suited to longitudinal studies with small samples and missing data (local non-linear regression analysis). Improvement over baseline was significant at 1 year for motor performance and muscle strength (p < 0.05), and at 2 years for FVC-U and FVC-S (p < 0.05). A subgroup analysis showed that the onset of the disease before adulthood (18 years), a male gender, and a latency of more than 2 years between the onset of symptoms and ERT administration are unfavorable prognostic factors. Conclusively, this study presents longitudinal data from the Greek LOPD cohort supporting previous observations, that therapeutic delay is related to worse prognosis and treatment effects may decline after several years of ERT. © 2020 Elsevier B.V."
}