‘Years my kids didn’t have’: Boost to Australian gene therapy development

When Megan Maack’s two children were diagnosed with a rare genetic condition causing childhood dementia in 2013, research teams overseas had a drug that could dramatically slow the disease’s progress.

But it took years for the drug to be developed to a clinical grade, and it is extremely difficult to enrol in trials of such drugs when they are held abroad.

Megan Maack (centre) and her children Isla, 14 (right) , and Jude, 12. Credit: Josefina Vargas

“They were years my kids didn’t have,” said Maack, who is now CEO of the Childhood Dementia Initiative, a group advocating for the 2800 children born with conditions causing childhood dementia in Australia each year, including her children Isla, 14, and Jude, 12, who have Sanflippo syndrome.

“We need to get these drugs to kids when they are young. Once they hit a point of decline, the drug is just not effective,” she said.

“Unfortunately, at the moment, there’s just not the capability in Australia to develop clinical trials locally. It is more about developing small batches to test on mice.”

But Maack is optimistic about the future of treatment in Australia, with major investment in gene therapy in NSW that could see life-changing drugs for rare childhood diseases being produced and trialled in Sydney as early as 2025.

A $134.5 million world-leading “viral vector” manufacturing facility in western Sydney is expected to be fully operational by the end of this year.

Viral vectors – microscopic tools which deliver genetic material into cells – are providing hope in the treatment of rare genetic diseases and cancers through gene therapy, an area of medicine which has progressed rapidly in the past five years.

“It’s just unbelievable what’s evolving: the way we can fix genes is now more precise,” said Professor Ian Alexander, head of the gene therapy research unit at Sydney Children’s Hospital.

“Instead of putting an extra copy of a healthy gene in, we can go in and fix ‘spelling errors’ in existing genes.”

A recent success story has been the treatment of spinal muscular atrophy (SMA), a rare condition causing muscle wastage which is the leading cause of infant death.

An international trial of gene therapy for the condition, which involved babies treated at Sydney Children’s Hospital, was so successful that since 2022 NSW has funded free screening for the disorder in a baby’s first three days of life, to ensure early access to treatment.

Maack said this would be an ideal outcome for therapies developed for conditions causing childhood dementia. Like SMA, she said, parents are unlikely to know if their child is at risk, and early genetic treatment, before a child’s decline, is critical.

“Both parents need to have a mutation in the same gene, so you can’t look at your family history,” she said.

“The majority of families will be completely blindsided by the diagnosis.”

The state government announced today it had created a new company, registered as Viral Vector Manufacturing Facility Pty Ltd, to manage operation of the Westmead plant as it manufactures the therapies on a commercial scale, managing relationships between research teams, universities, hospitals, pharmaceutical companies and other stakeholders.

“My priority as health minister has been to embrace innovative initiatives in improving health outcomes for our community,” Ryan Park said.

“These therapies are expanding rapidly, targeting more and more genetic diseases, cancer and infections, significantly increasing the number of patients who can and will benefit from viral vectors.

“This expansion in potential applications, treatments and patient benefits is not, however, matched by current manufacturing capacity, either locally or globally, which is causing a delay in us receiving these benefits.”

Alexander, one of two researchers leading the Westmead facility, said he supported the decision to run the facility through a company, as it needed to be “nimble” to be internationally competitive.

He said there had been significant interest from international researchers in the facility, amid a worldwide shortage of manufacturing capabilities for these life-changing drugs.

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