Miracle gene therapies can cure a disease with a single treatment, as Mark Lee found out after beating the disease that killed two of his brothers.
Miracle gene therapies can cure a disease with a single treatment, as Mark Lee found out after beating the disease that killed two of his brothers.

How Mark beat disease that killed his brothers

A breakthrough gene therapy "cured" Mark Lee of a rare blood disease that already killed two of his brothers, and a landmark agreement between state and federal governments today could allow others to get the life saving treatment more quickly.

For the 42-year-old's mother Eunice, who tragically lost two of her sons to the haemophilia B, the clinical trial that transformed his life was so miraculous it was a bit like the movie Saving Private Ryan.

"To say we were ecstatic would be understating it," she said.

"Ricky was only 11 weeks old when he went in for a circumcision and never came home," she said.

"Gerard was four days off turning 17 when he had a brain aneurysm and they couldn't stop the bleeding.

"To see Mark now it's an absolute miracle."

Mark Lee wants health system change so others can benefit from the therapy. Picture: Gary Ramage
Mark Lee wants health system change so others can benefit from the therapy. Picture: Gary Ramage

People with haemophilia are at risk of life threatening bleeds from minor injuries and need multiple doses each week of a drug that makes their blood clot.

In 2016 Mark, a motor mechanic from Geelong, received a revolutionary treatment that used a virus to deliver a gene therapy.

The therapy enabled his body to express the blood clotting factor on its own.

Gene therapies alter a person's cells to stop a disease and essentially recode the body's DNA - around 372 of these therapies are in clinical trials at the moment.

Mark received his treatment for free as part on an ongoing clinical trial but he feared complex regulatory hurdles would stand in the way of the one-off treatment being approved and subsidised for others.

He did not want the 400 other Australians with haemophilia B to die waiting to access it when the clinical trials finally end.

Unlike a new medicine which only needs to win the approval of a single government committee, a new gene therapy needs to clear two federal government committees and then get approval of state governments who must pay hefty hospital bills associated with treatment.

Mark with his mother Eunice, who lost two sons to haemophilia.
Mark with his mother Eunice, who lost two sons to haemophilia.

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Rare Voices Australia is calling for a national plan to streamline approval processes and develop a bigger workforce so there are enough doctors to deliver these complex gene treatments.

Approximately two million Australians are living with rare diseases and it can take years for them to achieve a diagnosis, they shouldn't be made to wait even longer to access a treatment, Rare Voices Australia CEO Nicole Millis said.

At a COAG meeting in Melbourne today, state and federal health ministers agreed on a new fast track process for gene therapies.

This agreement will see state and federal bureaucrats triage the treatments and decide which government committee must approve them for funding.

They will then be funded under the public hospital agreement.

Before the treatment, Mr Lee was a regular visitor to hospital emergency departments and his joints would swell up from minor bumps.

Mark in the Royal Children’s Hospital with a knee operation.
Mark in the Royal Children’s Hospital with a knee operation.

"Every time I got hurt I had to spend two days to two weeks in hospital with IV getting plasma to produce clotting factor to stop the bleeding," he said.

"I was having two to three injections every week of a drug monofix to raise my clotting factor levels."

Since the one-off gene therapy, Mr Lee has needed no treatment at all and his blood clotting level is back in the normal range.

Sydney's Royal Prince Alfred Hospital's Professor John Rasko played a key role in pivotal clinical trials of the treatment and is pleased there is a clearer pathway for funding.

"A single use of the drug changes a life forever, it's a genetic change," he said.

"Every patient wants it, every patient deserves it but the regulatory and compliance issues go far beyond other medicines".

Health Minister Greg Hunt's spokesman said the minister was focused on rapid patient access to these new therapies once they have been assessed as safe and effective by the independent medical experts.

"They are and will be eligible to be considered for public funding under a range of different arrangements. Depending on the treatment setting they are provided in, they will be funded through the PBS, LSDP, NHRA or National Blood Arrangements," the spokesman said.

 

 

GENE THERAPIES IN DEVELOPMENT

The Alliance of Regenerative Medicine last year counted over 372 clinical trials into new gene therapies taking place around the world.

These include treatments for:

Ovarian cancer;

Colorectal cancer;

Prostate cancer;

Pancreatic adenocarcinoma;

Non-small cell lung cancer;

Fabry's Disease;

Heart failure;

Severe combined immune deficiency;

Blindness caused by retinitis pigmentosa;

Leukaemia.

 

Some have already received approval for use in patients in Europe and the US and they include:

Zynteglo used to treat a blood disorder known as beta thalassaemia;

Zolgensma a spinal muscular atrophy gene therapy;

Car-T cell therapy has been approved for use in Australia for Acute Lymphoblastic leukaemia; Diffuse Large B-cell lymphoma.



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