SINGAPORE: The “breakthrough” gene therapy that has helped change the life of a young boy with an incurable rare disease should be made available to other Australians, advocates say.
About 100 kids and young adults across Australia have the same incurable form of epidermolysis bullosa as Jacob Burmeister, who became the first child in Australia to receive a life-changing gel.
EB charities and clinicians hope his treatment will boost efforts to get the drug beremagene geperpavec approved in Australia, and covered by the PBS for recessive dystrophic EB.
The first year of treatment costs about $1m AUD, but — as the drug is only applied on open wounds and heals them — the amount needed decreases over time.
The former federal health minister who oversaw the first PBS listing of a gene therapy in Australia has thrown his support behind the push.
Former Liberal politician Greg Hunt, who listed a multimillion dollar, life-changing treatment for infants with spinal muscular atrophy, said Jacob’s progress was “incredible heartening”.
“A little boy who was in agony is having a vastly better life,” he said.
“I hope that as many children and young people in Australia as possible can also get access to this treatment as soon as possible.”
He said the drug’s reported benefits were likely to reduce reliance on the NDIS in the long-term, so subsiding the drug was not only good for families but also the budget.
“Now there is … a gel which can improve the outcomes, reduce the pain and ultimately, it’s hoped, increase the chances of a longer life,” he said.
New drugs must be approved by the TGA — which measures their safety and efficacy and — in order to be subsidised on the PBS, recommended by an independent committee known as PBAC.
Mr Hunt said the government could accelerate access — without compromising these processes — by funding more trials and giving the gel a priority process.
“I hope it’s given the designation as a priority pathway drug both for approval and then for reimbursement,” he said.
RCH chief medical officer Associate Professor Tom Connell said the hospital treated Jacob in the hopes that the example it sets would help other kids get access.
“Every child who is eligible, no matter where they live, should have access to life-changing treatment like this,” he said.
CURE EB Foundation board executive Ashley Thompson said their organisation had actually raised money that helped fund early research into the gel.
“It’s something that we’re desperate to bring into Australia and make available to the Australian cohort,” he said.
“This disease is known as the worst disease you’ve never heard of for a reason.
“It is brutal and cruel, and this particular drug brings massive hope to Australian sufferers.”
EB support non-profit DEBRA Australia’s chief executive Mary-Jean Howard said they hope the gel’s developer, Krystal Biotech, submit an application to the TGA soon and Jacob’s treatment helps their case.
“We’re very pleased to see and to hear that there has been some meaningful progress in his health due to use of this,” she said.
“Certainly we will be watching closely in this space because we know that the families in Australia are really keen to have that same access as being made available in the US and Europe, in Australia here.”
Jacob’s dad Nathan Burmeister is also the chair of EB Research Partnership Australia, which is another organisation that has helped fund the gel, and is determined to see other patients get access.
He said it would “mean the world to him” if the life-changing improvements seen in his son help build momentum to get the drug approved and subsidised.
“We want to do it as fast as humanly possible,” he said.
“How can you not push this into the country immediately and do everything possible to get it here?”
Federal Health Minister Mark Butler referred questions from this masthead to the Health Department.
A department spokesman said the government “recognises patients diagnosed with epidermolysis bullosa and their families face an extraordinarily tough battle”.
“The sponsor is welcome to make an application at any time to the TGA to register their product in the ARTG, noting the government is unable to compel a sponsor to make an application for registration. The Australian government is committed to listing all medicines at the earliest opportunity on the PBS that are recommended by the PBAC.”