Journal article

Publication year: 2019

Journal: Annals of Translational Medicine

Volume number: 7

Issue number: 13

ISSN: 2305-5839

eISSN: 2305-5847

Open access status: Gold

DOI Link: https://doi.org/10.21037/atm.2019.04.70

Publisher: AME Publishing

Abstract: 
Infantile-onset Pompe disease (IOPD) is characterized by virtually complete absence of acid alpha-glucosidase (GAA)-activity, resulting in rapidly progressive hypertrophic cardiomyopathy (HCM), profound skeletal muscle weakness, and death usually within the first 12 months of life. Enzyme replacement therapy (ERT) with recombinant GAA in humans started in 1999, and pivotal studies demonstrated that the treatment ameliorated HCM, improved motor function in some patients, and prolonged overall and ventilator-free survival. These outcomes led to the approval of ER'F in 2006. Implementation of ER'F has uncovered multisystemic character of IOPD, not known in the pre-ERT era. Although ERT has substantially improved the prognosis of IOPD, mortality is still considerable, and decline of motor function with time is frequent in long-term survivors. This review details the new complex IOPD phenotype, outlines problems related to ERT, and highlights unmet needs.

Harvard Citation style: Hahn, A. and Schaenzer, A. (2019) Long-term outcome and unmet needs in infantile-onset Pompe disease, Annals of Translational Medicine, 7(13), Article 283. https://doi.org/10.21037/atm.2019.04.70

APA Citation style: Hahn, A., & Schaenzer, A. (2019). Long-term outcome and unmet needs in infantile-onset Pompe disease. Annals of Translational Medicine. 7(13), Article 283. https://doi.org/10.21037/atm.2019.04.70