Long-term outcome and unmet needs in infantile-onset Pompe disease

Annals of Translational Medicine
Andreas Hahn, Anne Schänzer

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 ERT in 2006. Implementation of ERT 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.

Citations

Mar 3, 2020·Birth Defects Research·Shawn E McCandless, Erica J Wright
Sep 24, 2020·Biomolecules·Naresh K Meena, Nina Raben
Oct 20, 2020·International Journal of Neonatal Screening·Raymond SaichSteven Krinks
Dec 21, 2020·EBioMedicine·Rachel MyerowitzNina Raben
Feb 10, 2021·Fortschritte der Neurologie-Psychiatrie·Andreas HahnBenedikt Schoser
Dec 18, 2020·Frontiers in Pediatrics·Marina Flotats-Bastardas, Andreas Hahn
Jul 17, 2020·Molecular Therapy. Methods & Clinical Development·Naresh Kumar MeenaRosa Puertollano
Feb 10, 2021·International Journal of Neonatal Screening·Raymond SaichSteven Krinks
May 12, 2021·Journal of Human Genetics·Manuel A ViamontePeter B Kang

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