Author:
Gragnaniello Vincenza,Deodato Federica,Gasperini Serena,Donati Maria Alice,Canessa Clementina,Fecarotta Simona,Pascarella Antonia,Spadaro Giuseppe,Concolino Daniela,Burlina Alberto,Parenti Giancarlo,Strisciuglio Pietro,Fiumara Agata,Casa Roberto Della
Abstract
Abstract
Background
Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1–2 years of life. Enzymatic replacement therapy (ERT) with alglucosidase alfa is the only available treatment, but adverse immune reactions can reduce ERT’s effectiveness and safety. It is therefore very important to identify strategies to prevent and manage these complications. Several articles have been written on this disease over the last 10 years, but no univocal indications have been established.
Methods
Our study presents a review of the current literature on management of immune responses to ERT in c-IOPD as considered by an Italian study group of pediatric metabolists and immunologists in light of our shared patient experience.
Results
We summarize the protocols for the management of adverse reactions to ERT, analyzing their advantages and disadvantages, and provide expert recommendations for their optimal management, to the best of current knowledge. However, further studies are needed to improve actual management protocols, which still have several limitations.
Publisher
Springer Science and Business Media LLC
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