Clinical Scenario

This protocol addresses infantile-onset Pompe disease presenting at birth or within the first months of life, in patients who have hypertrophic cardiomyopathy and are not CRIM (Cross Reactive Immune Material) negative.

Condition Details

Disease onset occurs at birth or within the first few months of life. Hypertrophic cardiomyopathy is a characteristic finding in this population and may already be present in utero. CRIM-negative status — which affects approximately one third of infantile Pompe disease patients depending on genotype — defines a distinct subgroup; the present protocol applies to patients who are not CRIM-negative.

Treatment Approach (Partial Overview)

Enzyme replacement therapy (ERT) is the established intervention for this patient population and must be initiated without delay following diagnosis. The complete dosing regimen, clinical algorithm, and monitoring guidance are detailed in the full protocol.

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.
In these patients treatment should be started immediately after diagnosis, without delay.
Long-term alglucosidase alfa treatment substantially improves cardiomyopathy, markedly extends survival and ventilation-free survival.

View source ↗

Treatment of Glycogen Storage Disease Type II with Hypertrophic Cardiomyopathy in Infantile-Onset Pompe Disease

References