Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up studyWirkung einer immunmodulatorischen Therapie beim ersten kroatischen Kind mit der Diagnose einer Pompe’schen Krankheit: eine Verlaufsstudie über 3 Jahre

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).