Pompe Disease – Treatment

Thanks to the dedication and commitment of Scientists in the Netherlands, America and Australia, who did the hard work of research into Pompe disease and a possible treatment, and thanks toSanofi Genzyme, the drug company which specialises in manufacturing drugs for rare diseases, a treatment for Pompe disease is available.The treatment comes in the form of Enzyme Replacement Therapy, is administered by infusion into the patient’s blood stream. In Australia, this infusion usually takes place in a hospital once a fortnight. In most patients, this treatment slows down or halts the progression of Pompe disease.

It has taken many years and many millions of dollars in research to develop an enzyme replacement Therapy, which is complex to manufacture, and as with many enzyme replacement therapy drugs the cost of Treatment is generally out the reach of the average person.

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 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 and Gene therapy for Pompe disease.

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 humane 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.