Next-gen drug for rare disease now free

·2-min read

Access to a next-generation drug is the new reality for those with the extremely rare muscle-wasting condition Pompe disease.

Melbourne mother-of-two Tarryn Holland says the addition of the drug Nexviazyme to the federal government's Life Saving Drugs Program this week could offer her more quality years with her kids, Dia and Odessa.

"I don't think 42 is old," she told AAP on Sunday.

"The longer I can be vaguely active and see my kids grow up is really important."

People with Pompe disease lack an enzyme critical in the breakdown of excess glycogen.

That results in muscle wasting, eventually wearing down a person's ability to move, swallow and breathe.

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

Ms Holland, who discovered she had Pompe aged 30, has a walking stick and uses a mobility scooter to travel longer distances.

A first-generation enzyme replacement therapy has slowed her decline but she's hopeful Nexviazyme could halt - and perhaps even reverse - the symptoms.

"If it could get the progress to stop, that would be amazing," she said.

"In the rare disease space, we're lucky we even have a treatment, let alone a next-generation drug. It's so exciting."

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

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

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

Sanofi Australia's Kasia Siwek said the drug maker was proud of its work on treating rare diseases, supplying six of the 16 drugs on the federal program.

Patient advocates still want to see the government add Pompe to the expanded list of rare diseases examined in newborn blood screening.

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

"If it was on newborn bloodspot screening, people can access treatment, which can stop that progression or in the case of infants, save their lives."