Management of the condition
Pompe disease affects multiple body systems; management therefore requires a multidisciplinary team approach.1
Optimal management broadly comprises treatment of clinical manifestations, prevention of primary and secondary manifestations, and ongoing monitoring.
Initial Treatment and Prevention of Primary Manifestations:
Enzyme replacement therapy
In normal individuals acid α-glucosidase (GAA) enzymes are synthesised by the cell, glycoslyated and phosphorylated to provide the mannose-6-phosphate residue that targets it to the lysosome. Mannose-6-phosphate receptors on the surface of the cell bind to and re-internalise GAA enzyme that has been secreted outside the cell, delivering it back to the lysosome.2 In Pompe disease, enzyme replacement therapy (ERT) targets this receptor-meditated reuptake system to deliver exogenous enzyme to the lysosome. ERT supplements low/absent GAA enzymes to change the natural course of the disease.2 It should be initiated as soon as the Pompe disease has been definitively diagnosed.
Negative cross-reactive immunological material (CRIM) status in patients with infantile-onset Pompe disease is associated with the development of anti-rhGAA IgG antibodies, which significantly reduce the effectiveness of ERT.3, 4
Prevention of Secondary Complications
Individuals with Pompe disease are at very high risk of pneumonia and other infections. It is recommended that:1
- Infections are aggressively managed.
- Immunisations are kept current.
- Patients and household members receive annual influenza vaccinations.
- Respiratory syncytial virus (RSV) prophylaxis is administered in the first two years.