Treatments for Pompe Disease

I'll just make a small note here and say that while we may have this very rare and awful disease, it is great to know that there are so many people working on finding treatments and a cure for us ~ Allyson

Enzyme Replacement Therapy

Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. 

The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme.  As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. 

A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of infants and children with Pompe disease.  Another alglucosidase alfa drug, Lumizyme©, has been approved for late-onset (non-infantile) Pompe disease.

Note: In New Zealand Lumizyme is called Myozyme

Gene Replacement Therapy

As quoted from the AMDA website:

"Gene replacement therapy will eventually be the cure for Pompe disease and other rare disorders. But until this dream is realized, enzyme replacement therapy offers hope in the near future for those affected by the devastation of Pompe disease".

There is a very interesting webinar on this following website about Gene Replacement Therapy.  It's well worth watching and pretty easy to understand too which is a bonus when you think you cannot cram any more medical terms into your head!  Plus it gives great hope for the future!

http://www.amda-pompe.org/index.php/main/webinar/diaphragm_delivery_of_recombinant_adeno-associated_virus_acid_alpha-glucosi