Glycogen storage disease Type II
ICD-10 E74.0 · ICD-11 5C51.3.8

Treatment of Glycogen Storage Disease Type II with Hypertrophic Cardiomyopathy After First-Generation ERT Failure

This protocol covers infantile-onset Pompe disease presenting at or within the first months of birth, in CRIM-positive patients who have hypertrophic cardiomyopathy and have not achieved adequate response with a maximised first-generation enzyme replacement therapy regimen.

Clinical Scenario

The disease is present at birth or within the first few months of life, with associated hypotonia, feeding difficulties, or respiratory problems. A hypertrophic cardiomyopathy is characteristically present and may already develop in utero. The patient is not CRIM negative — GAA protein expression is present.

Prior Treatment & Failure Condition

The previous line involved escalating Alglucosidase alfa dosing in patients with classic infantile disease showing a suboptimal response, plateau, or clinical decline. This protocol is indicated when that approach failed to achieve improved walking ability, improved gross motor outcomes, or improved pulmonary function measures.

Next-Line Treatment Approach

When first-generation enzyme replacement therapy no longer produces adequate skeletal muscle or respiratory stabilization, switching to a second-generation enzyme replacement therapy may be considered. The complete dosing criteria, escalation thresholds, and management algorithm are available in the full protocol.

Treatment Goals

Stabilization or improvement of skeletal muscle and respiratory function.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1186/s13023-024-03373-w

The disease may be present at birth or within the first few months of life with hypotonia, feeding difficulties or respiratory problems.

A hypertrophic cardiomyopathy is characteristically present and may already develop in utero.

About one third of infantile Pompe disease patients, depending on their genotype, do not express any GAA protein and are defined CRIM negative.

Switching to a second-generation ERT can be considered if there is no indication of skeletal muscle and/or respiratory function stabilization or improvements after at least a year on first-generation recombinant alpha-glucosidase, or if the patient suffers from severe infusion-associated reactions that cannot be adequately managed.

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