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 Such patients should, ideally, receive immunomodulatory therapy prior to receiving their first course of ERT. Multiple immunomodulation protocols are in use, most include a combination of rituximab with additional drugs (including mycophenylate mofetil, methotrexate, and sirolimus).5, 6
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.
- Immunizations are kept current.
- Patients and household members receive annual influenza vaccinations.
- Respiratory syncytial virus (RSV) prophylaxis (palivizumab) is administered in the first two years.
Patients with Pompe disease should be closely followed to monitor overall health status, disease progression and treatment effectiveness
Pompe disease affects multiple body systems; optimal management therefore requires a multidisciplinary team approach led by a physician who is experienced in managing this disorder.1
The Pompe Disease Registry is an ongoing, observational database that tracks the natural history and outcomes of patients with Pompe disease.