Is There a Treatment for Pompe Disease?

Investigational therapeutic approaches specific to Pompe disease are now being studied at research centers around the world. These include:

Enzyme replacement therapy (ERT)
Gene therapy
Bone marrow transplantation

Before a new therapy can be approved for use in people with a particular disease, it must be thoroughly tested in formal research studies. These begin as preclinical studies in animals and progress to clinical trials in humans.

Clinical trials are usually conducted in three phases. Each phase is designed to evaluate the safety and/or effectiveness of the treatment by giving it to groups of patients for a set period of time to see how the treatment affects their health. To obtain approval for the treatment, the data from all of these studies (preclinical and clinical) must be carefully reviewed by government regulatory agencies.

To learn more about clinical trials, click here >

Enzyme Replacement Therapy (ERT)

This investigational treatment aims to replace the acid alpha-glucosidase (AL-fa glue-CO-sih-days) (GAA) that people with Pompe disease cannot make at all or in sufficient quantity on their own. It is called a recombinant, or genetically-engineered, enzyme. ERT is given to patients as an investigational treatment through an intravenous (IV) infusion (an injection given over time directly into a vein).

Studies to evaluate the safety and effectiveness of ERT have been under way for several years and are currently ongoing. Initial clinical trials looked at patients with infantile-onset Pompe disease and a small number of severely affected patients with late-onset disease. However, a clinical trial of ERT with larger numbers of late-onset patients is now being conducted. The results of these studies will help determine the overall safety and effectiveness of this therapy.

Current status of ERT clinical trials

More than 200 people around the world are receiving the investigational enzyme through clinical studies or expanded access programs to evaluate the safety and/or effectiveness of rhGAA (recombinant human acid alpha-glucosidase)
In an expanded access program, patients outside the United States who do not qualify for a clinical trial may be able to receive the investigational treatment
If you have questions about enrolling in clinical trials or expanded access programs for Pompe disease, contact the Medical Information Department at Genzyme 800-745-4447 in the United States or 617-768-9000 from anywhere in the world

For more information on clinical trials, you can go to http://www.clinicaltrials.gov and search for “Pompe” where you will find a list of active and completed clinical trials in Pompe disease.

The Pompe Patient Program offers more information about investigational treatments for Pompe disease. Learn more about Genzyme’s Pompe Program >

Gene Therapy

With gene therapy, scientists hope to insert a normal copy of the GAA gene into the body so that it would be able to start making GAA on its own. So far, preclinical research using animals has focused on finding the best vehicle to transfer the gene into the body and reach the cells that will make enough enzyme to start clearing away glycogen (GLY-co-jen) and restoring muscle function.

If this effort succeeds, it would be a major advance in the treatment of Pompe disease. Gene therapy is still in its early stages and testing has not yet begun in humans.

Bone Marrow Transplantation

Previous attempts at bone marrow transplantation for Pompe disease have not met with success. There is limited data to suggest that next-generation techniques might be more effective, however. Further studies will likely be needed to determine whether bone marrow transplantation may be beneficial.