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Patients with rare disease get free access to life-saving wonder drug

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Thursday, November 01, 2018

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Australians with a rare genetic condition, that can kill sufferers in the most severe cases by the age of 50, will now have free access to a next-generation medication that usually costs hundreds of thousands of dollars a year.

Health Minister Greg Hunt will on Thursday announce Galafold (migalastat) has been added to the federal government's Life Saving Drugs Program (LSDP) for the treatment of Fabry disease.

Lea Chant has been taking the drug Galafold to treat Fabry disease.

Lea Chant, 55, has taken Galafold as a clinical trial participant for the past eight years.

She and her son Christopher were diagnosed with Fabry disease and the same mutation when Christopher was six-months-old.
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"I figured I would be the guinea pig for my son," she said. "If it worked on me it would work for him."

The pair are among 300 Australians diagnosed with the rare condition, but experts say milder cases are undiagnosed.

People with Fabry disease have one of thousands of genetic mutations on their X chromosome that prevents their ability to produce enough of a particular enzyme to break down a fatty substance called globotriaosylceramide, which builds up in the body's cells.

It affects between one in 40,000 to one in 117,000 live births in western countries.

Dr Mark Thomas, a nephrologist at Royal Perth Hospital and director of a statewide Fabry disease service, said the condition usually manifested in childhood, starting with "terrible burning pain" in the hands and feet.

Other symptoms included severe pain, skins rashes, headaches, fatigue, fever, vomiting and diarrhoea and an inability to sweat.

The fatty build-up in major organs could cause stroke, kidney failure and heart disease.

"The most severe cases die before the age of 50," Dr Thomas said.

When Mrs Chant was diagnosed, the unexplained pains and illnesses she'd experienced since childhood suddenly clicked into place: the sharp pains in her abdomen, the kidney infections, heat intolerance and the appendectomy she probably didn't need.

But the disease tended to be more severe in males.

"The genetic counsellor told me my son would die before he was 30," Mrs Chant said.

"It was a very distressing time for our family."

Fabry patients with severe symptoms can undergo enzyme replacement therapy – also funded by the LSDP. It involves intravenous infusions at specialist centres every two weeks, which can be painful and disruptive.

Galafold is an oral medication that can be taken at home every second day.

The next generation drug works by attaching to the mutant enzyme and stabilising it and partially restoring its function, allowing it to move to areas of the cell where it can breakdown the fatty build up.

Galafold is the 14th drug to be added to the LSDP, which provides free access to highly specialised medicines for patients with rare and potentially deadly diseases that do not meet he criteria to be funded on the Pharmaceutical Benefits Scheme.

Without the subsidy, the drug typically costs $US315,000 ($444,600) per year.

Minster Hunt said adding Galafold to the LSDP offered patients another treatment option that reduced symptoms and dramatically improved quality of life "whilst also allowing patients to manage their own treatment at home without the need to have painful injections or infusions".

The drug does not work for all everyone. It effectively treats between 30 and 50 per cent of Fabry patients who have just over 300 specific gene mutations.

Mrs Chant is among them. The drug eases her symptoms which were becoming difficult to manage and work.

She hopes her son – now 23 and an apprentice plumber – will be able to access the drug.

Managing director of Fabry Australia Megan Fookes said the importance of Fabry patients having access to the latest treatment developments for the lifelong conditions could not be underestimated.

"It also means that the Australian Fabry patient community with amenable mutations will be given greater treatment choice when speaking to their doctors about how to best manage the debilitating effects of their disease in line with global practice," Ms Fookes said.

Galafold is the first drug included on the LSDP since reforms - introduced in July - streamlined the process, made it more transparent and improved access for patients.

"These medicines are very expensive and would be too high of a financial burden on patients," Mr Hunt said.

"Medicines funded through this program include high cost medicines that do not meet the criteria to be funded on the Pharmaceutical Benefits Scheme (PBS).

In 2017-18 the Government invested $128 million in the LSDP, Mr Hunt said.

Author: Kate Aubusson
Source: The Sydney Morning Herald
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