Pompe Disease Patients Won’t Find Much Help in New Zealand

According to a story from Newshub, Freda Evans learned early on that there were no treatments covered under the New Zealand health care system to treat her Pompe disease. Freda is 63 now, but she was first diagnosed decades ago. It has been a year since was she able to access the drug that she needed, and that was only thanks to a compassionate access program that was started by the manufacturer.
Pompe disease is a metabolic disorder that is caused by genetic mutations. The disorder results in the buildup of glycogen in the lysosome of the patient’s cells. This buildup occurs because the enzyme necessary to process glycogen is deficient. Pompe disease can appear early in a life or in a late onset form. Symptoms include trouble coughing, loss of muscle tone, problems chewing and swallowing, progressive muscle weakness, and recurring chest infections. Generally, people with late onset form have a better prognosis. To learn more about Pompe disease, click here.

The most common treatment for patients with Pompe disease is called Myozyme, which was first approved for use by the U.S. Food and Drug Administration in 2006. The drug is not ideal, as a year of treatment can cost $300,000-$400,000 and it also can have significant side effects. However, studies have demonstrated its effectiveness in restoring functionality for Pompe disease patients. Early treatment also produces the best results. Despite this, PHARMAC, the agency that must approve medicines for use in New Zealand, has so far declined to approve Myozyme.

The excuse, as it often is in these cases, is that the benefits do not outweigh the expense. However, Dr. Collette Bromhead, who leads the New Zealand Organisation for Rare Disorders (NZORD), sees the situation much differently. She says that Myozyme is absolutely worth the cost, particularly if the drug is prescribed immediately on diagnosis. Early intervention allows someone with Pompe disease to live and work independently. Without it, patients are forced to rely on wheelchairs and breathing assistance in order to stay alive.

In order to address the challenge of costly rare disease drugs, PHARMAC is currently in the process of developing a new standard protocol specifically for the coverage of expensive, rare drugs like Myozyme. Regardless, Collette points to Freda’s case as an example of why anyone with a rare disease who is hoping for a life-saving treatment to get approved for coverage shouldn’t hold their breath.

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