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.