Treatment of Glycogen Storage Disease Type II in Late-Onset Pompe Disease with Proximal Myopathy
This protocol addresses Glycogen storage disease Type II (Pompe disease) presenting after the age of 1 year — in childhood or adulthood — with proximal (limb-girdle) myopathy and progressive motor disability, and without cardiac involvement.
Clinical Scenario
Patients may present at any age after the first year of life. The characteristic picture is proximal (limb-girdle) muscle weakness leading to a waddling gait and progressive motor disability — more closely tied to disease duration than to age at onset — and typically without cardiac involvement.
Treatment Approach
Management is centred on enzyme replacement therapy (ERT) using a recombinant human enzyme. Alongside pharmacological treatment, dietary protein intake is an important adjunct consideration. The complete dosing schedule, administration route and interval, and supporting dietary guidance are contained in the full protocol.
Treatment Goals
- Improvement in motor function, assessed by the 6-minute walk test (6-MWT)
- Improvement in respiratory function, assessed by forced vital capacity (FVC)
References
DOI: 10.1186/s13023-024-03373-w
- Patients may present at any age, but mostly after the age of 1 year during childhood or adulthood.
- They usually present with proximal (limb girdle) myopathy leading to progressive motor disability (more closely related to disease duration than to the age of the patient), with waddling gait, mostly without cardiac involvement.
- The licensed dose of Alglucosidase alfa is 20 mg/kg body weight, every other week, by intravenous infusion.
- It has been advised that adult Pompe patients should consume 1.2–1.4 g/kg protein per day, which is above the intake recommended for the general population (0.8–1.0 g/kg).
- Alglucosidase alfa treatment improves motor (6-min-walk test, 6-MWT) and respiratory function (forced vital capacity, FVC).
View source ↗