Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study

Wiener klinische Wochenschrift
Josko MarkicJulije Mestrovic

Abstract

Pompe disease is a storage disorder characterized by deficient or absent activity of the enzyme acid alpha-glucosidase. As a result of ineffective metabolism, glycogen accumulates in muscle tissues. Patients with a classic infantile-onset form present by the first few months of life with hypertrophic cardiomyopathy and muscle weakness. If left untreated, these patients rapidly die of cardiorespiratory failure. A cross-reactive immunological material (CRIM)-negative status is predictive of high anti-alglucosidase alpha antibody titers. However, CRIM-positive patients also sometimes develop robust antibody titers. High antibody titers complicate therapeutic management, and those patients have a worse clinical outcome of enzyme replacement therapy (ERT).Four years ago, we successfully used an immune modulation therapy (IMT) protocol in a CRIM-positive infantile-onset patient with Pompe disease in whom ERT had to be discontinued because of severe infusion-associated reactions. She was found to be positive for anti-alglucosidase alpha antibodies. IMT (rituximab, methotrexate, and intravenous gammaglobulin) was started, and ERT was safely reintroduced during the IMT induction phase without any complications. Antibodies disappeared; I...Continue Reading

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Citations

Nov 11, 2014·Human Gene Therapy·Sang-Oh HanDwight Koeberl
Aug 11, 2018·Journal of the American Society of Nephrology : JASN·Malte Lenders, Eva Brand
Feb 3, 2018·Medicine·Miriam MartínezMiguel Saenz de Pipaon
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Aug 24, 2021·Cardiology in the Young·Barry J ByrneUNKNOWN Pompe ADVANCE Study Consortium
Feb 20, 2020·Molecular Therapy. Methods & Clinical Development·Stijn L M In 't GroenW W M Pim Pijnappel

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