Management of the condition

Pompe disease affects multiple body systems; management therefore requires a multidisciplinary team approach.

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.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.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.



Ongoing Monitoring

Ongoing Monitoring

Patients with Pompe disease should be closely followed to monitor overall health status, disease progression and treatment effectiveness 

Multidisciplinary Approach

Multidisciplinary Approach

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

Disease Registry

Disease Registry

The Pompe Disease Registry is an ongoing, observational database that tracks the natural history and outcomes of patients with Pompe disease. 


Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.


  1. 1.Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE. Pompe disease diagnosis and management guideline. Genet Med. 2006;8.
  2. 2.Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014;6:177.
  3. 3.Banugaria SG, Prater SN, Ng YK, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13:729-36.
  1. 4.Kishnani PS, Goldenberg PC, DeArmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99:26-33.
  2. 5.Messinger YH, Mendelsohn NJ, Rhead W, et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012;14:135-42.
  3. 6.Elder ME, Nayak S, Collins SW, et al. B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2013;163:847-54 e1.