Drug for deadly Pompe disease has gone free

Access to next-generation medicine is the new reality for people with Pompe disease, an extremely rare Pompe disease.

Tarryn Holland, a Melbourne mother-of-two, said adding the drug Nexviazyme to the Federal Government’s lifesaving drugs program this week could give her more quality years with her children, Dia and Odessa.

“I don’t think 42 is old,” she told AAP on Sunday.

“The longer I can be vaguely active and watch my kids grow is really important.”

People with Pompe disease lack an enzyme essential for breaking down excess glycogen. This leads to muscle wasting, which eventually exhausts a person’s ability to move, swallow, and breathe.

Fatal in infants if left untreated, Pompe is known to affect around 70 Australians.

Ms Holland, who discovered she had PUMP when she was 30, has a cane and uses a mobility scooter to cover longer distances.

First-generation enzyme replacement therapy slowed her decline, but she hopes Nexviazyme can stop – and maybe even reverse – the symptoms.

“If it could stop progress, that would be amazing,” she said.

‘It’s very exciting’

“In the field of rare diseases, we are lucky to even have a treatment, not to mention a next-generation drug. It’s very exciting.”

The drug, which costs hundreds of thousands of dollars per person every year, last week became the 16th treatment to be included in the drug program, meaning the federal government fully subsidizes the therapy.

It is also taking treatment out of hospitals, allowing patients to receive fortnightly infusions at home.

Health Minister Mark Butler said the treatment would help reduce the burden on hospitals while making a significant difference for people with work, school and family commitments.

Kasia Siwek of Sanofi Australia said the drugmaker was proud of its work on treating rare diseases, supplying six of the 16 drugs in the federal program.

Patient advocates still want to see the government add Pompe to the expanded list of rare diseases screened as part of newborn blood screening.

“It took 13 years to get my diagnosis,” Ms Holland said.

“If it was screening for blood spots in newborns, people can access treatment, which can stop that progression or, in the case of infants, save their life.”


Christy J. Olson