Treatment Options

Enzyme replacement therapy (ERT) is currently the only specific treatment for Pompe disease. It is available in Australia to eligible patients with Pompe disease through the Life Saving Drugs Program (LSDP).

Enzyme replacement therapy addresses the enzyme deficiency in Pompe disease by providing an exogenous source of the deficient acid α-glucosidase enzyme. The goal of treatment is to reduce symptoms, stabilise disease progression and improve patient outcome.1The greatest potential for benefit is likely to be seen when ERT is initiated early in the disease course before irreversible changes have occurred.1

The most recent consensus guidelines recommend ERT for infantile-onset Pompe disease patients and symptomatic late-onset Pompe disease patients who have a definite diagnosis of Pompe disease. 1, 2

In Australia, patients living with Pompe disease must meet criteria set by the Life Saving Drugs Program to access subsidised ERT. For more information on treatment guidelines, access criteria, application and reapplication forms and tests required, please visit:


  1. 1.Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE. Pompe disease diagnosis and management guideline. Genet Med. 2006;8.
  1. 2.Al Jasmi F, Al Jumah M, Alqarni F, et al. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurol. 2015;15:1-17.