Pompe Disease – Treatment

There is treatment for Pompe disease available in Australia.

The treatment comes in the form of Enzyme Replacement Therapies, which are administered by infusion into the patient’s bloodstream. In Australia, this infusion usually takes place in a hospital setting once a fortnight although home infusions may be available once the treating clinician feels it is appropriate.

In most patients, this treatment slows down or halts the progression of Pompe disease.

Here in Australia, treatment is funded by the Federal government for all Australians subject to the treatment guidelines.

The Department of Health Pompe Treatment Guidelines for infants and juveniles diagnosed before the age of 18 years only requires a confirmed diagnosis of Pompe disease subject to the guideline conditions for a patient to receive treatment.

Adult patients need a confirmed diagnosis and confirmation that the disease has progressed and is causing difficulties for the patient subject to the guideline conditions.

A number of other companies, including  Amicus Therapeutics, are currently developing treatments including second-generation enzyme replacement, gene therapy and substrate reduction therapy for Pompe disease. These are currently in the clinical trial stages.

Delayed diagnosis and treatment can cause a lifetime of disability

IMPORTANT: This information is intended to provide general information in regard to the matter covered. It is provided as a public service by the Australian Pompe Association. Medicine is constantly changing and human error and changes in practice make it impossible to certify the accuracy of such complex material. Confirmation of this information from your doctor or medical practitioner is required.