Adjournment Debate

Pompe Disease

House of Representatives

I rise today to discuss Pompe disease, a rare, progressive and fatal neuromuscular condition that affects fewer than 30 people in Australia, including north-west Sydney resident Mr Raymond Saich. Pompe disease progressively weakens the muscles until people are confined to a wheelchair and need a respirator to breathe. It is extremely rare, with an estimated incidence of one in 40,000 live births.

There are two types of Pompe disease: infantile onset and late onset, often referred to as childhood, juvenile, adult or late onset. Infantile onset Pompe disease leads to cardiac and/or respiratory failure before patients reach one year of age. Children and adults who develop Pompe disease later in life will experience less rapid but relentless progression of the disease. Patients with Pompe disease are deficient in an enzyme required for the breakdown of glycogen in the cells of the body. The steady accumulation of glycogen in the body’s tissues, in particular the heart muscle, leads to progressive debility, organ failure and death.

The Pharmaceutical Benefits Advisory Committee, PBAC, has previously considered submissions to fund Myozyme through the Life Saving Drugs Program for the treatment of late onset Pompe disease on six occasions—July 2008, March 2009, November 2009, November 2010, July 2011 and November 2012—and on each occasion found that there was insufficient evidence to demonstrate that a patient’s lifespan would be substantially extended as a direct consequence of treatment with Myozyme.

As reported by Blacktown Sun editor Phyllis McGraw in 2011:

Myozyme is subsidised in 44 other countries, including Britain and the US. But the Pharmaceutical Benefits Advisory Committee has refused to list it on the PBS Life Saving Drugs program, most recently last December, citing the low number of case studies on the effects of the drug.

Australian Pompe Association President, Helen Walker, said myozyme would be of great benefit to sufferers of Pompe disease. She said:

The majority of people being treated with Myozyme experience a significant improvement in their energy levels as the drug has been proven to halt the progression of the disease …

Without treatment, Pompe patients face a long and drawn out life in palliative care, wheelchair bound and on a respirator.

Since Mr Saich’s situation was raised with me, all avenues I have pursued have been exhausted, including taking the matter up with the minister’s office and the manufacturer of myozyme, Genzyme. Genzyme replied to my representation on 11 June this year, and I thank them for doing so. In their response they outlined that they have provided Australian patients with charitable access to myozyme since 2005, because:

… the medical community believes in the value of our therapy and its ability to improve and extend the lives of those affected by Pompe.

Currently, Genzyme treats 20 Australians with myozyme under the international Charitable Access Program, or ICAP, at a cost to Genzyme of nearly $60 million to date. Unfortunately, Genzyme cannot extend the program to any newly diagnosed children, teenagers or adults with late onset Pompe disease due to financial constraints.

I am also acutely aware that the PBAC is an independent body and should remain at arm’s length from politicians, but my personal view is that putting myozyme on the PBS should remain on PBAC’s agenda. People like Mr Saich depend on it.