Banugaria, S.G., Prater, S.N., Mackey, J., Das, S., Amalfitano, A., Rosenberg, A.S., et al. (2012) Persistence of High Sustained Antibodies to Enzyme Replacement Therapy Despite Extensive Immunomodulatory Therapy in an Infant with Pompe Disease: Need for Agents to Target Antibody-Secreting Plasma Cells. Molecular Genetics and Metabolism, 105, 677-680.
https://doi.org/10.1016/j.ymgme.2012.01.019

has been cited by the following article:

• TITLE: Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

  AUTHORS: Paula De Almeida Thomazinho, Eliana Pelissari, Regina Célia Beltrão Duarte, Carolina Fishinger Moura De Souza, Heloíse Helena Siqueira Borges, Maria Da Glória Cruvinel Horta, Liane De Rosso Giuliani, Ana Maria Martins, Lilian Stewart, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena

  KEYWORDS: Motor Development, Child Disability, Glycogen Storage Disease Type II, Enzyme Replacement Therapy

  JOURNAL NAME: Open Journal of Clinical Diagnostics, Vol.9 No.1, March 22, 2019

  ABSTRACT: Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.